Disease-gene associations mined from literature

Literature associating HMGCR and Smith-Lemli-Opitz syndrome

HMGCR [ENSP00000287936]

3-hydroxy-3-methylglutaryl-coenzyme A reductase; Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins; Belongs to the HMG-CoA reductase family.

Synonyms:  HMGCR,  A0A024RAP2,  C9JKX7,  D6RIW0,  H0Y8F6 ...

Linkouts:  STRING  Pharos  UniProt