DISEASES

Disease-gene associations mined from literature

Literature associating ELOVL1 and atopic dermatitis 2

ELOVL1 [ENSP00000477602]

Elongation of very long chain fatty acids protein 1; 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 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. Indirectly inhibits RPE65 via production of VLCFAs; Belongs to the ELO family. ELOVL1 subfamily.

Synonyms:  ELOVL1,  ELOVL1p,  hELOVL1,  Q9BW60,  Q9BW60p ...

Linkouts:  STRING  Pharos  UniProt