ELOVL4

ELOVL4
Identifiers
Aliases	ELOVL4, ADMD, CT118, ISQMR, SCA34, STGD2, STGD3, ELOVL fatty acid elongase 4
External IDs	OMIM: 605512; MGI: 1933331; HomoloGene: 41488; GeneCards: ELOVL4; OMA:ELOVL4 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	79,947,553 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	83,688,330 bp
RNA expression pattern
	Top expressed in
	skin of thigh; ; skin of arm; ; vulva; ; thymus; ; cerebellar vermis; ; human penis; ; skin of abdomen; ; secondary oocyte; ; postcentral gyrus; ; orbitofrontal cortex;
	Top expressed in
	skin of external ear; ; lip; ; skin of back; ; skin of abdomen; ; neural layer of retina; ; esophagus; ; retinal pigment epithelium; ; umbilical cord; ; pontine nuclei; ; anterior horn of spinal cord;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; G protein-coupled photoreceptor activity; protein binding; 3-oxo-arachidoyl-CoA synthase activity; 3-oxo-cerotoyl-CoA synthase activity; 3-oxo-lignoceronyl-CoA synthase activity; fatty acid elongase activity; very-long-chain 3-ketoacyl-CoA synthase activity;
Cellular component	integral component of membrane; integral component of endoplasmic reticulum membrane; endoplasmic reticulum membrane; endoplasmic reticulum; membrane;
Biological process	fatty acid biosynthetic process; fatty acid metabolic process; lipid metabolism; fatty acid elongation, saturated fatty acid; very long-chain fatty acid biosynthetic process; detection of visible light; sphingolipid biosynthetic process; fatty acid elongation, monounsaturated fatty acid; fatty acid elongation, polyunsaturated fatty acid; unsaturated fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	6785
	83603
	ENSG00000118402
	ENSMUSG00000032262
	Q9GZR5
	Q9EQC4
	NM_022726
	NM_148941
	NP_073563
	NP_683743
	Wikidata
View/Edit Human	View/Edit Mouse

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.