Disease-gene associations mined from literature

Literature associating ELOVL1 and fetal akinesia deformation sequence syndrome

ELOVL1 [ENSP00000477602]

Elongation of very long chain fatty acids protein 1; Catalyzes the first and rate-limiting reaction of the four 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 C18 to C26 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,  ELOVL1-001,  ELOVL1-002 ...

Linkouts:  STRING  Pharos  UniProt