Gene
elovl4b
- ID
- ZDB-GENE-030131-7672
- Name
- ELOVL fatty acid elongase 4b
- Symbol
- elovl4b Nomenclature History
- Previous Names
-
- elovl4
- wu:fk62b04
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have fatty acid elongase activity. Involved in very long-chain fatty acid biosynthetic process. Predicted to localize to integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in corneal dystrophy and spinocerebellar ataxia type 34. Is expressed in optic vesicle; pleuroperitoneal region; presumptive neural retina; solid lens vesicle; and visual system. Orthologous to human ELOVL4 (ELOVL fatty acid elongase 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73054 (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:Q6P978
|
303 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
elovl4b-201
(1)
|
Ensembl | 2,533 nt |
Interactions and Pathways
No data available
Plasmids
No data available