DISEASES

Disease-gene associations mined from literature

Literature associating MCCC1 and syndromic microphthalmia 3

MCCC1 [ENSP00000265594]

Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.

Synonyms:  MCCC1,  MCCC1p,  hMCCC1,  E9PG35,  E9PHF7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM