ELOVL4

Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.^[5][6]

AliasesELOVL4, ADMD, CT118, ISQMR, SCA34, STGD2, STGD3, ELOVL fatty acid elongase 4

External IDsOMIM: 605512; MGI: 1933331; HomoloGene: 41488; GeneCards: ELOVL4; OMA:ELOVL4 - orthologs

Chr.Chromosome 6 (human)^[1]

End79,947,553 bp^[1]

Quick facts Identifiers, Aliases ...

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)[1] Band 6q14.1 Start 79,914,814 bp[1] End 79,947,553 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 E2 Start 83,660,745 bp[2] End 83,688,330 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 6785 83603 Ensembl ENSG00000118402 ENSMUSG00000032262 UniProt Q9GZR5 Q9EQC4 RefSeq (mRNA) NM_022726 NM_148941 RefSeq (protein) NP_073563 NP_683743 Location (UCSC) Chr 6: 79.91 – 79.95 Mb Chr 9: 83.66 – 83.69 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Close

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).^[7][8] ELOVL4 and its products are found in the brain, skin, retina, meibomian glands, testes and sperm.^{[9][10][11][12][13][14][15]} 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.^{[16][17][18][19][20][21][22][23][24][25]}