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Cytochrome P450 Family 27 Subfamily B Member 1: The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1α-hydroxylase).
1. Normal Function
This enzyme carries out the second of two reactions to convert vitamin D to its active form, 1,25-dihydroxyvitamin D3, also known as calcitriol. Vitamin D can be acquired from foods in the diet or can be made in the body with the help of sunlight exposure. When active, this vitamin is involved in maintaining the proper balance of several minerals in the body, including calcium and phosphate, which are essential for the normal formation of bones and teeth. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. Vitamin D is also involved in several processes unrelated to bone and tooth formation.
2. Health Conditions Related to Genetic Changes
2.1 Vitamin D-Dependent Rickets
At least 70 mutations in the CYP27B1 gene have been found to cause vitamin D-dependent rickets type 1A (VDDR1A), also known as vitamin D 1α-hydroxylase deficiency. This disorder of bone development is characterized by low levels of calcium (hypocalcemia) and phosphate (hypophosphatemia) in the blood, which lead to soft, weak bones that are prone to fracture. A common feature of this condition is abnormally curved (bowed) legs.
The CYP27B1 gene mutations that cause this condition reduce or eliminate the function of 1α-hydroxylase. As a result, vitamin D does not get converted to its active form and cannot control mineral absorption. The resulting reduction in calcium and phosphate absorption from the intestines into the blood means there is less of these minerals to be deposited in developing bones (bone mineralization), which leads to soft, weak bones and other features of VDDR1A. Hypocalcemia also causes muscle weakness and seizures in some affected individuals.
3. Other Names for This Gene
25 hydroxyvitamin D3-1-alpha hydroxylase
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
cytochrome p450 27B1
cytochrome P450 subfamily XXVIIB polypeptide 1
cytochrome P450, family 27, subfamily B, polypeptide 1
cytochrome P450C1 alpha
VD3 1A hydroxylase
The entry is from https://medlineplus.gov/genetics/gene/cyp27b1
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- Portale AA, Miller WL. Human 25-hydroxyvitamin D-1alpha-hydroxylase: cloning, mutations, and gene expression. Pediatr Nephrol. 2000 Jul;14(7):620-5. Review.
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