DISEASES

Disease-gene associations mined from literature

Literature associating AACS and juvenile spinal muscular atrophy

AACS [ENSP00000324842]

Acyl-CoA synthetase family member 1; Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family.

Synonyms:  AACS,  A0A024RBV2,  AACS-001,  AACS-002,  AACS-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM