Literature associating CYP51A1 and Poland syndrome
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 ...