AAAS

GENE INFORMATION

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Gene name

AAAS

Synonyms

Description

achalasia, adrenocortical insufficiency, alacrimia (HGNC Symbol)

Entrez gene summary

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]

Chromosome

12 (Chromosome progress)

Cytoband

q13.13

Chromosome location (bp)

53701240 - 53718648

Ensembl

ENSG00000094914 (version 73.37)

Entrez gene

8086

UniProt

Q9NRG9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NRG9

Antibodypedia

AAAS antibodies
 

PROTEIN VIEW

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AAAS-001
 
AAAS-002
 
AAAS-004
 
AAAS-012
 
AAAS-020
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AAAS-001 ENSP00000209873
ENST00000209873
Q9NRG9
Show all »
Show » Show » 546 59.6 No 0
AAAS-002 ENSP00000377908
ENST00000394384
Q9NRG9
Show all »
Show » Show » 513 55.8 No 0
AAAS-004 ENSP00000446885
ENST00000550286
F8VZ44
Show all »
Show » Show » 422 45.6 No 0
AAAS-012 ENSP00000448020
ENST00000547757
F8VUB6
Show all »
Show » Show » 277 30.3 No 0
AAAS-020 ENSP00000457518
ENST00000548931
H3BU82
Show all »
Show » Show » 358 38.5 No 0