Disease-gene associations mined from literature

Literature associating ACSL3 and autosomal dominant non-syndromic intellectual disability 38

ACSL3 [ENSP00000350012]

acyl-CoA synthetase long-chain family member 3; Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL3 mediates hepatic lipogenesis (By similarity). Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates (By similarity). Has mainly an anabolic role in energy metabolism. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins); Belongs to the ATP-dependent AMP-binding enzyme family.

Synonyms:  ACSL3,  ACSL3p,  hACSL3,  A0A024R497,  B3KMA6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM