CYP27C1

Human gene encoding the enzyme cytochrome P450 27C1

CYP27C1

Symbol	CYP27C1
HGNC ID	20598
Alternative symbols	–
Entrez Gene	–
OMIM	–
RefSeq	–
UniProt	–
Chromosome	2q33
Locus supplementary data	–

CYP27C1 is a gene in humans that encodes the enzyme cytochrome P450 27C1. This enzyme is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids.

Function

The CYP27C1 enzyme is involved in the metabolism of vitamin D3 and other sterols. It is known to hydroxylate vitamin D3 at the 25th carbon position, which is a crucial step in the activation of vitamin D3. This activation is essential for maintaining proper levels of calcium and phosphate in the blood, which are necessary for healthy bone formation and maintenance.

Gene Location

The CYP27C1 gene is located on the long arm (q) of chromosome 2 at position 33. The precise location of the gene is from base pair 202,000,000 to base pair 202,100,000 on chromosome 2.

Clinical Significance

Mutations in the CYP27C1 gene can lead to disorders related to vitamin D metabolism. These disorders can result in abnormal bone development and maintenance, leading to conditions such as rickets and osteomalacia. Research is ongoing to better understand the full range of functions and implications of CYP27C1 in human health and disease.

Related Enzymes

CYP27C1 is part of a larger family of cytochrome P450 enzymes, which includes:

• CYP1A1
• CYP2D6
• CYP3A4

See Also

• Cytochrome P450
• Vitamin D
• Steroid metabolism
• Chromosome 2

External Links

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