ELOVL fatty acid elongase 4
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratodermas
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+6 more panels — install the extension to see the full list inline on any page.
spinocerebellar ataxia type 34
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Stargardt disease 3
Congenital ichthyosis - intellectual disability - spastic quadriplegia
Stargardt disease
eye disorder
alcohol drinking
Retinal dystrophy
rosacea
ELOVL4-related maculopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Very long chain fatty acid elongase 4
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 catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development
Curated MONDO disease pages that list ELOVL4 among their top associated genes.
ELOVL4 · Q9GZR5
Mean pLDDT
83.4/ 100
Confident
314 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
