DISEASES

Disease-gene associations mined from literature

Literature associating ELOVL3 and fetal akinesia deformation sequence syndrome

ELOVL3 [ENSP00000359022]

Elongation of very long chain fatty acids protein 3; 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 with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Synonyms:  ELOVL3,  ELOVL3p,  hELOVL3,  Q9HB03,  CIG30 ...

Linkouts:  STRING  Pharos  UniProt  OMIM