ELOVL fatty acid elongase 1
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Childhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIchthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedWhite matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRetinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
neurodegenerative disease
cystic kidney disease
Abnormality of the urinary system
optic atrophy
hepatocellular carcinoma
neoplasm
colorectal carcinoma
acrokeratosis verruciformis
breast cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Very long chain fatty acid elongase 1
Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). 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 exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905). Indirectly inhibits RPE65 via production of VLCFAs
ELOVL1 · Q9BW60
Mean pLDDT
89.9/ 100
Confident
279 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
