AAAS Gene
protein-coding GIFtS: 53
GCID: GC12M053701
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|
achalasia, adrenocortical insufficiency, alacrimia(Previous names: achalasia, adrenocortical insufficiency, alacrimia (Allgrove,...)
| |
Aliases
for AAAS gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Achalasia, Adrenocortical Insufficiency, Alacrimia1 2 | | ADRACALIN2 | | ADRACALA2 3 | | ALADIN2 | | AAA2 5 | | Aladin1 | | Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A)1 | | Allgrove, Triple-A2 | | AAASb2 | | Adracalin3 |
Export aliases for AAAS gene to outside databasesPrevious GC identifers: GC12P053994 GC12P053789 GC12M053417 GC12M051987 GC12M050742 |
Summaries
for AAAS gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AAAS:
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved innormal development of the peripheral and central nervous system. The encoded protein is part of the nuclear porecomplex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome(AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms havebeen found for this gene. (provided by RefSeq, Mar 2010)
UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9Function: Plays a role in the normal development of the peripheral and central nervous system
Gene Wiki entry for AAAS
|
Genomic Views
for AAAS gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AAAS gene promoter:
AP-1 ATF-2 MyoD AP-2beta c-Jun NF-kappaB1 AP-2alpha AP-2alphaA
Other transcription factors
Search SABiosciences Chromatin IP Primers for AAAS
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AAAS |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13AAAS Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M053701: view genomic region
(about GC identifiers)
Start:
|
53,701,240 bp from pter |
End:
|
53,718,648 bp from pter |
Size:
|
17,409 bases |
Orientation:
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minus strand |
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Proteins
for AAAS gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9 (See
protein sequence)Recommended Name: Aladin Size: 546 amino acids; 59574 Da
Secondary accessions: Q5JB47 Q9NWI6 Q9UG19Alternative splicing: 2 isoforms: Q9NRG9-1 Q9NRG9-2 (Ubiquitously expressed)Explore the universe of human proteins at neXtProt for AAAS: NX_Q9NRG9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NRG9
AAAS Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001166937.1 NP_056480.1
ENSEMBL proteins: ENSP00000209873 ENSP00000377908 ENSP00000446885 ENSP00000457518 ENSP00000448020 Reactome Protein details: Q9NRG9
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
AAAS for ontologies About GeneDecksing
AAAS Antibody Products:
Assay Products for AAAS: |
Protein
Domains /
Families
for AAAS gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AAAS for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NRG9ProtoNet protein and cluster: Q9NRG9 UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9Similarity: Contains 4 WD repeats |
Function
for AAAS gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9Function: Plays a role in the normal development of the peripheral and central nervous system
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AAAS (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AAAS (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): AAAS (NM_015665) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AAAS | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAAS |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAAS |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
AAAS for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Aaastm1Ahue for AAAS
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Aaas):
AAAS for phenotypes About GeneDecksing
|
Pathways & Interactions
for AAAS gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus | | | 2 | Cytokine Signaling in Immune system | | | 3 | HIV Infection | | | 4 | SLC-mediated transmembrane transport | | | 5 | Late Phase of HIV Life Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/23 
Reactome Pathways for AAAS (see all 23)
1 
Kegg Pathway (Kegg details for AAAS):
AAAS for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AAAS
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/69 Interacting proteins for AAAS (Q9NRG93 ENSP000002098734) via UniProtKB, MINT, STRING, and/or I2D (see all 69)About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table
AAAS for ontologies About GeneDecksing
|
Drugs & Compounds
for AAAS gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
AAAS for compounds About GeneDecksing
 Browse Tocris compounds for AAAS
1 Novoseek chemical compound relationship for AAAS gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acth |
58.3 |
3 |
18426811 (2), 18279781 (1) |
Search CenterWatch for drugs/clinical trials and news about AAAS
|
Transcripts
for AAAS gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AAAS gene (2 alternative transcripts): NM_001173466.1 NM_015665.5 Unigene Cluster for AAAS: Achalasia, adrenocortical insufficiency, alacrimia Hs.369144 [show with all ESTs]Unigene Representative Sequence: AK09430218/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20): ENST00000209873(uc001scr.4 uc001scs.4) ENST00000552876 ENST00000394384
ENST00000550286 ENST00000548931 ENST00000550033 ENST00000547520 ENST00000546572
ENST00000546393 ENST00000547761 ENST00000547757 ENST00000549983 ENST00000547238
ENST00000549821 ENST00000549450 ENST00000548258 ENST00000551724 ENST00000552161
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AAAS (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AAAS (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): AAAS (NM_015665) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AAAS | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAAS |
Additional cDNA sequence: AF226048.1 AJ289857.1 AK000833.1 AK094302.1 AK222509.1 AK293342.1 AL110160.1 AY237818.1 BC000659.2 BC018836.2 BT006912.1 20 DOTS entries: DT.416286 DT.95167303 DT.75103801 DT.121180914 DT.100846216 DT.100846222 DT.40259973 DT.65284108 DT.121180939 DT.95167301 DT.100029444 DT.92439335 DT.100758722 DT.121180903 DT.121180929 DT.416284 DT.92439331 DT.95167299 DT.95167302 DT.97850238 24/372 AceView cDNA sequences (see all 372): CB123646 CR597176 BQ681094 AI873660 BQ687774 BQ685495 AL550148 BM461749 BI829100 BQ084010 BE547512 BQ962114 BM552143 BP351112 AI361791 AI140344 CR597994 BU153912 BM128590 BM762954 BQ879190 BU579732 BU729690 BQ009784
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for AAAS (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | - | | - | | | | | | - | | - | | | | - | | | | - | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | - | | | | | | - | | - | | | | - | | | | - | | - | | - | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | - | | | | - | | | | - | | - | | - | | | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | - | | - | | | | | | - | | - | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 |
|---|
|
| SP1: | | | | | | | - | | | | |
| SP2: | | | | | | | - | | | | |
| SP3: | | | | | | | - | | | | |
| SP4: | | | | | | | | | | | |
| SP5: | | | | | | | | | | |
ECgene alternative splicing isoforms for AAAS
|
Expression
for AAAS gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AAAS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCTGCCCCT
About this image
See AAAS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AAAS
SOURCE GeneReport for Unigene cluster: Hs.369144
UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9Tissue specificity: Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenalgland, pituitary gland, gastrointestinal structures and fetal lung
SABiosciences Custom PCR Arrays for AAAS
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AAAS
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AAAS | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AAAS | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AAAS | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAAS |
Orthologs
for AAAS gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for AAAS gene from 7/20 species (see all 20) About this table
ENSEMBL Gene Tree for AAAS (if available)
TreeFam Gene Tree for AAAS (if available) |
Paralogs
for AAAS gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AAAS gene
AAAS for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for AAAS
PGOHUM00000243301
|
Genomic Variants
for AAAS gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AAAS (53701240 - 53718648 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AAAS: --
Human Gene Mutation Database (HGMD): AAAS
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AAAS |
|
Disorders
/ Diseases
for AAAS gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AAAS for disorders About GeneDecksing
OMIM gene information: 605378
OMIM disorders: 231550
UniProtKB/Swiss-Prot: AAAS_HUMAN, Q9NRG9
Defects in AAAS are the cause of achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]; also known astriple-A syndrome or Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropichormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associatedwith variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system.Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also bepresent
20/21  diseases for AAAS (see all 21): About MalaCardsachalasia-addisonianism-alacrima syndrome achalasia adrenocortical insufficiency triple-a syndrome
ruptured abdominal aortic aneurysm abdominal aortic aneurysm accommodative spasm aortic aneurysm
corpus callosum axonal neuropathy short stature dysphagia
dysautonomia peripheral neuropathy myoclonus neuropathy
polyneuropathy neutropenia osteoporosis infertility
5 diseases from the University of Copenhagen DISEASES database for AAAS:Abdominal aortic aneurysm triple-A syndrome Achalasia Ruptured abdominal aortic aneurysm
Accommodative spasm 5 Novoseek disease relationships for AAAS gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| alacrima |
99.1 |
13 |
18628786 (2), 15680696 (1), 15690314 (1), 19172511 (1) (see all 10) |
| allgrove syndrome |
98.5 |
27 |
17880786 (3), 15516781 (2), 19703420 (2), 11062474 (1) (see all 17) |
| achalasia |
92.6 |
14 |
18628786 (1), 15680696 (1), 15690314 (1), 19172511 (1) (see all 11) |
| neurological disorders |
42.5 |
9 |
15680696 (1), 15690314 (1), 18662670 (1), 19855093 (1) (see all 6) |
| genetic disorder |
25.6 |
1 |
19322026 (1) |
Export disorders for AAAS gene to outside databases
|
Publications
for AAAS gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AAAS gene, integrated from 9 sources (see all 93):
(articles sorted by number of sources associating them with AAAS) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutant WD-repeat protein in triple-A syndrome. (PubMed id 11062474)1, 2, 3, 9 Tullio-Pelet A.... Lyonnet S. (2000)
- Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. (PubMed id 16022285)1, 2, 9 Li X.... Mao Y. (2005)
- Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. (PubMed id 11159947)1, 2, 9 Handschug K....Huebner A. (2001)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. (PubMed id 15666842)1, 9 Huebner A....Koehler K. (2004)
- The nuclear pore complex protein ALADIN is anchored v ia NDC1 but not via POM121 and GP210 in the nuclear envelope. (PubMed id 19782045)1, 9 Kind B....Huebner A. (2009)
- Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. (PubMed id 11701718)1, 9 Sandrini F....Stratakis C.A. (2001)
- Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. (PubMed id 15680696)1, 9 Storr H.L....Michael G.J. (2005)
- Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mecha nism. (PubMed id 19855093)1, 9 Storr H.L....Clark A.J. (2009)
|
External Searches for AAAS gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AAAS gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AAAS gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AAAS gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AAAS | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AAAS |
|
| | |
About This Section
| Patent Information for AAAS gene:
Search GeneIP for patents involving AAAS
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AAAS gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
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| | |  | OriGene Antibodies for AAAS | | OriGene shRNA RFP for AAAS | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AAAS | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AAAS | | | OriGene Protein Over-expression Lysate for AAAS | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AAAS | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AAAS | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AAAS | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AAAS | | OriGene Custom Protein Services for AAAS | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AAAS | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AAAS | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AAAS | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AAAS | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AAAS | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AAAS |
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| | | | Search Tocris compounds for AAAS |
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 | | | AAAS Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAAS |
|  |  |  | | | | ThermoFisher Antibodies for AAAS |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAAS |
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