DISEASES

Disease-gene associations mined from literature

Literature associating DHCR7 and Smith-Lemli-Opitz syndrome

DHCR7 [ENSP00000347717]

7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC); Belongs to the ERG4/ERG24 family.

Synonyms:  DHCR7,  DHCR7p,  hDHCR7,  A0A024R5F7,  B4E1K5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM