DISEASES

Disease-gene associations mined from literature

Literature associating ACSF3 and KBG syndrome

ACSF3 [ENSP00000479130]

Malonate--CoA ligase ACSF3, mitochondrial; Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21846720, PubMed:21841779). May have some preference toward very-long-chain substrates ; Belongs to the ATP-dependent AMP-binding enzyme family.

Synonyms:  ACSF3,  ACSF3p,  hACSF3,  A0A3B3ISK9,  F5GX20 ...

Linkouts:  STRING  Pharos  UniProt