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'''CYP24A1''' is an enzyme that in humans is encoded by the ''CYP24A1'' gene. This enzyme plays a crucial role in the [[metabolism]] of [[vitamin D]], by initiating the degradation of 1,25-dihydroxyvitamin D3 (the active form of vitamin D), thus regulating [[vitamin D]] levels in the body. The ''CYP24A1'' gene is located on [[chromosome 20]] (20q13.2) in humans.

The enzyme encoded by ''CYP24A1'' is part of the [[cytochrome P450]] family, a group of enzymes that are involved in the oxidation of organic substances. Specifically, CYP24A1 is involved in the hydroxylation and oxidation of the active [[vitamin D]] metabolites, converting them into less active forms. This process is essential for maintaining the balance of [[vitamin D]] in the body, which is crucial for various bodily functions including [[calcium]] absorption and bone health.

Mutations in the ''CYP24A1'' gene have been associated with several medical conditions. For instance, loss-of-function mutations can lead to [[hypercalcemia]] (elevated calcium levels in the blood) and [[hypercalciuria]] (elevated calcium levels in the urine), conditions that are often grouped under the term "idiopathic infantile hypercalcemia". This is due to the reduced breakdown of 1,25-dihydroxyvitamin D3, leading to increased [[vitamin D]] activity and calcium absorption.

Conversely, gain-of-function mutations in ''CYP24A1'' can lead to reduced [[vitamin D]] levels, potentially contributing to conditions such as [[osteomalacia]] (softening of the bones) in adults and [[rickets]] in children, due to impaired bone mineralization.

The regulation of ''CYP24A1'' expression is complex and involves various factors including [[parathyroid hormone]], [[calcium]], and [[phosphorus]] levels in the body, as well as the presence of 1,25-dihydroxyvitamin D3 itself. Understanding the regulation and function of CYP24A1 is important for developing treatments for conditions related to [[vitamin D]] metabolism and calcium homeostasis.

Research into ''CYP24A1'' and its role in [[vitamin D]] metabolism has also implications beyond bone health, including potential roles in the immune system, cancer prevention, and the regulation of cell growth and differentiation.

[[Category:Genes on chromosome 20]]
[[Category:Cytochrome P450]]
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CYP24A1 - Revision history

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