ELOVL4
Sign in to saveAlso known as ADMD, CT118, ISQMR, SCA34, STGD2, STGD3, ELOVL fatty acid elongase 4
Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.
In the Vinony graph
Vinony's link graph records 7 inbound references to ELOVL4, and connects out to PubMed, human chromosome 6 and Ensembl genome database project.
Vinony files it under Genes on human chromosome 6 and Long stubs with short prose.
Vinony links it to 6 Wikipedia language editions.
Gene data
ELOVL4- Name
- ELOVL fatty acid elongase 4
- Type
- protein-coding
- Position
- 79,913,808–79,947,701 (−)
- Aliases
- ADMD, CT118, ISQMR, SCA34, STGD2, STGD3
- Ensembl
- ENSG00000118402
- RefSeq RNA
- NM_022726.4
- RefSeq protein
- NP_073563.1
This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ELOVL fatty acid elongase 4
- Symbol
- ELOVL4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:79,913,808-79,947,701
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 41488
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6785
- genomic end
- 79947553
- genomic start
- 79914814
- chromosome
- human chromosome 6
- cytogenetic location
- 6q14.1
- expressed in
- orbitofrontal cortex
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- See also
- References
- Further reading
Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.
ELOVL4 is a member of a large family of fatty acid elongases (ELO) that catalyzes the rate-limiting step in the elongation of long chain fatty acids (LC-FA) into very long-chain saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids, collectively known as VLC-FA (very long chain fatty acid). ELOVL4 and its products are found in the brain, skin, retina, meibomian glands, testes and sperm. Known mutations of ELOVL4 in humans cause diseases such as Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), spinocerebellar ataxia-34 (SCA34), skin deformities and seizures.
Excerpted from Wikipedia’s “ELOVL4” article, available under the CC BY-SA 4.0 licence.