DISEASES

Disease-gene associations mined from literature

Literature associating CYP51A1 and primary amebic meningoencephalitis

CYP51A1 [ENSP00000003100]

Lanosterol 14-alpha demethylase; A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25- dihydrolanosterol likely through sequential oxidative conversion of 14- alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH- ferrihemoprotein reductase) .

Synonyms:  CYP51A1,  CYP51A1p,  hCYP51A1,  A0A0C4DFL7,  H7C0D0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM