Gene
elovl4a
- ID
- ZDB-GENE-040426-1767
- Name
- ELOVL fatty acid elongase 4a
- Symbol
- elovl4a Nomenclature History
- Previous Names
-
- zgc:73341
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable fatty acid elongase activity. Acts upstream of or within very long-chain fatty acid biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including liver; nervous system; neural rod; pleuroperitoneal region; and trigeminal placode. Human ortholog(s) of this gene implicated in corneal dystrophy and spinocerebellar ataxia type 34. Orthologous to human ELOVL4 (ELOVL fatty acid elongase 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73341 (6 images)
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 |
|---|---|---|---|
| spinocerebellar ataxia type 34 | Alliance | Spinocerebellar ataxia 34 | 133190 |
| Stargardt disease | Alliance | Stargardt disease 3 | 600110 |
| Ichthyosis, spastic quadriplegia, and impaired intellectual development | 614457 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ELO family | ELO family, conserved site | Elongation of very long chain fatty acids protein 4 |
|---|---|---|---|---|
|
UniProtKB:Q6PBM2
|
309 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
elovl4a-201
(1)
|
Ensembl | 2,172 nt |
Interactions and Pathways
No data available
Plasmids
No data available