Gene
abca4a
- ID
- ZDB-GENE-050517-3
- Name
- ATP-binding cassette, sub-family A (ABC1), member 4a
- Symbol
- abca4a Nomenclature History
- Previous Names
-
- zgc:91823
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled intramembrane lipid transporter activity; ATPase-coupled transmembrane transporter activity; and phospholipid transporter activity. Predicted to be involved in lipid transport. Predicted to localize to intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in fundus dystrophy and retinal degeneration (multiple). Orthologous to human ABCA4 (ATP binding cassette subfamily A member 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| age related macular degeneration 2 | Alliance | {Macular degeneration, age-related, 2} | 153800 |
| cone-rod dystrophy 3 | Alliance | Cone-rod dystrophy 3 | 604116 |
| retinitis pigmentosa 19 | Alliance | Retinitis pigmentosa 19 | 601718 |
| Stargardt disease | Alliance | Fundus flavimaculatus | 248200 |
| Stargardt disease | Alliance | Retinal dystrophy, early-onset severe | 248200 |
| Stargardt disease | Alliance | Stargardt disease 1 | 248200 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Length |
|---|---|
|
UniProtKB:Q6GML4
|
280 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abca4a-201
(1)
|
Ensembl | 859 nt | ||
| mRNA |
abca4a-202
(1)
|
Ensembl | 7,045 nt | ||
| mRNA |
abca4a-203
(1)
|
Ensembl | 1,421 nt | ||
| mRNA |
abca4a-204
(1)
|
Ensembl | 894 nt |
Interactions and Pathways
No data available
Plasmids
No data available