Gene
aaas
- ID
- ZDB-GENE-030912-4
- Name
- achalasia, adrenocortical insufficiency, alacrimia
- Symbol
- aaas Nomenclature History
- Previous Names
-
- zgc:85873
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be involved in nucleocytoplasmic transport. Predicted to localize to nuclear pore. Human ortholog(s) of this gene implicated in achalasia and triple-A syndrome. Orthologous to human AAAS (aladin WD repeat nucleoporin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6907703 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| triple-A syndrome | Alliance | Achalasia-addisonianism-alacrimia syndrome | 231550 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Aladin | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:Q6NW98
|
499 |
Interactions and Pathways
No data available
Plasmids
No data available