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 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 optic vesicle; pleuroperitoneal region; presumptive neural retina; solid lens vesicle; and visual system. 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
- 13 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73054 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Nwagbo et al., 2024
- 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