Disease-gene associations mined from literature

Literature associating ELOVL7 and fetal akinesia deformation sequence syndrome

ELOVL7 [ENSP00000424123]

Elongation of very long chain fatty acids protein 7; 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 C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. May participate in the production of saturated and polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators; Belongs to the ELO family. ELOVL7 subfamily.

Synonyms:  ELOVL7,  ELOVL7p,  hELOVL7,  A1L3X0,  D6RBM2 ...

Linkouts:  STRING  Pharos  UniProt