Gene Symbol |
AAAS
|
Entrez Gene |
8086
|
Alt Symbol |
AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
achalasia, adrenocortical insufficiency, alacrimia
|
Other Description |
Allgrove, triple-A|aladin
|
Swissprots |
Q9NWI6 Q9UG19 Q5JB47 Q9NRG9
|
Accessions |
ADI77423 ADI77424 ADI77425 ADI77426 ADI77427 CAC17465 CAC19038 EAW96692 EAW96693 Q9NRG9 AF226048 AAF86948 AJ289857 CAC19017 AK000833 BAA91394 AK094302 AK222509 BAD96229 AK293342 BAG56858 AL110160 CAB53665 AY237818 AAP69911 BC000659 AAH00659 BC018836 BT006912 AAP35558 DC393722 DQ893306 ABM84232 DQ893864 ABM84790 XM_006719617 XP_006719680 XM_006719619 XP_006719682 XM_011538777 XP_011537079 XM_011538778 XP_011537080 XM_011538779 XP_011537081 XM_011538780 XP_011537082 XM_011538781 XP_011537083 NM_001173466 NP_001166937 NM_015665 NP_056480
|
Function |
Plays a role in the normal development of the peripheral and central nervous system.
|
Subcellular Location |
Nucleus, nuclear pore complex {ECO:0000269|PubMed:19782045}.
|
Tissue Specificity |
Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung. {ECO:0000269|PubMed:16022285}.
|
Top Pathways |
RNA transport
|