Symbol: Name: ID: |
AAAS achalasia, adrenocortical insufficiency, alacrimia GFS:3191 |
Gene name: | AAAS |
Chromosome: | 12q13 |
Previous Symbols: | |
Previous Names: | achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) |
Aliases: | |
Name Aliases: | aladin, |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2443767 | Rat Genome Database ID: | RGD:1308701 |
HGNC ID: | HGNC:13666 | RefSeq IDs: | NM_001173466 |
Entrez Gene ID: | 8086 | Ensembl Gene ID: | ENSG00000094914 |
VEGA IDs: | OTTHUMG00000134954 | UniProt ID: | Q9NRG9 |
UCSC ID: | uc001scr.3 | OMIM ID: | 605378 |
Pubmed: | PMID11062474 | ||
CCDS IDs: | CCDSCCDS8856.1 |
Aladin also known as adracalin is a protein that in humans is encoded by the AAAS gene [achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)].
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex 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 have been found for this gene. [provided by RefSeq, Mar 2010].
Function: Plays a role in the normal development of the peripheral and central nervous system.
Products for AAAS gene
Catalog | Product Name | Application | Company |
GFS:E03191 | achalasia, adrenocortical insufficiency, alacrimia; ELISA kit | ELISA | n/a |
GFS:A03191 | achalasia, adrenocortical insufficiency, alacrimia; Anti | ANTIBODIES | n/a |
GFS:P03191 | achalasia, adrenocortical insufficiency, alacrimia; Protien | Protien | n/a |