DISEASES

Disease-gene associations mined from literature

Literature associating HMGCS1 and fetal akinesia deformation sequence syndrome

HMGCS1 [ENSP00000322706]

3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble); This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.

Synonyms:  HMGCS1,  HMGCS1p,  hHMGCS1,  A0A024R059,  D6RIW1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM