ELOVL fatty acid elongase 5
Annotations refreshed 9 hours ago.
Moderate Evidence (Amber)
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary ataxia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSpinocerebellar ataxia type 38
neurodegenerative disease
colorectal cancer
cervical carcinoma
breast carcinoma
hereditary disease
prostate carcinoma
spinocerebellar ataxia type 36
cartilage disease
exostosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Very long chain fatty acid elongase 5
Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity)
ELOVL5 · Q9NYP7
Mean pLDDT
81.9/ 100
Confident
299 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
