CYP51A1
Description
The CYP51A1 (cytochrome P450 family 51 subfamily A member 1) is a protein-coding gene located on chromosome 7.
CYP51A1, also known as lanosterol 14α-demethylase, is a cytochrome P450 enzyme essential for sterol biosynthesis. It belongs to a conserved family of proteins that play crucial roles in the metabolism of organic substances and the biosynthesis of important steroids, lipids, and vitamins in eukaryotes. CYP51A1 specifically catalyzes the removal of the C-14α-methyl group from lanosterol, a key step in the conversion of lanosterol to other sterols used within the cell. This demethylation step is considered the initial checkpoint in this transformation. The evolutionary history of CYP51A1 reveals that it diverged early in the evolution of cytochrome P450 enzymes and has maintained its function, the removal of the 14α-methyl group from sterol substrates. While the protein's mode of action is conserved, its sequence varies significantly across biological kingdoms, with only a 22-30% similarity in amino acid composition between kingdoms.
Sterol 14alpha-demethylase (CYP51A1) is a key enzyme in the cholesterol biosynthesis pathway. It catalyzes the removal of the 14alpha-methyl group from sterols like lanosterol and 24,25-dihydrolanosterol, converting them into intermediates of cholesterol biosynthesis. This enzyme plays a critical role in the production of cholesterol, which is the major sterol component of mammalian membranes and a precursor for bile acids and steroid hormones. CYP51A1 can also demethylate non-mammalian substrates such as eburicol, but at a lower rate than 24,25-dihydrolanosterol.
CYP51A1 is also known as CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1.
Associated Diseases
- long QT syndrome 11
- familial long QT syndrome
- long QT syndrome 1
- early-onset non-syndromic cataract
- urinary bladder cancer
