DISEASES

Disease-gene associations mined from literature

Literature on FADS2

FADS2 [ENSP00000278840]

Acyl-CoA 6-desaturase; Acts as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively . Subsequently, in the biosynthetic pathway of HUFA n- 3 series, desaturates tetracosapentaenoate (24:5n-3) to tetracosahexaenoate (24:6n-3), which is then converted to docosahexaenoate (DHA)(22:6n-3), an important lipid for nervous system function (By similarity). Desaturates palmitate to produce the mono- unsaturated fatty acid sapienate, the most abundant fatty acid in sebum . Also desaturates (11E)-octadecenoate (trans- vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity).

Synonyms:  FADS2,  FADS2p,  hFADS2,  E5RGD8,  E5RGZ5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM