Disease-gene associations mined from literature

Literature associating ECHS1 and amelogenesis imperfecta type 1C

ECHS1 [ENSP00000357535]

Enoyl CoA hydratase, short chain, 1, mitochondrial; Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.

Synonyms:  ECHS1,  ECHS1p,  hECHS1,  P30084,  P30084p ...

Linkouts:  STRING  Pharos  UniProt  OMIM