CYP27B1 gene

cytochrome P450 family 27 subfamily B member 1

The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1α-hydroxylase). 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.

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.

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Cytogenetic Location: 12q14.1, which is the long (q) arm of chromosome 12 at position 14.1

Molecular Location: base pairs 57,762,334 to 57,767,193 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q14.1, which is the long (q) arm of chromosome 12 at position 14.1
  • 1alpha(OH)ase
  • 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
  • 25 hydroxyvitamin D3-1-alpha hydroxylase
  • 25-OHD-1 alpha-hydroxylase
  • CYP1alpha
  • CYP27B
  • cytochrome p450 27B1
  • cytochrome P450 subfamily XXVIIB polypeptide 1
  • cytochrome P450, family 27, subfamily B, polypeptide 1
  • cytochrome P450C1 alpha
  • cytochrome P450VD1-alpha
  • P450c1
  • VD3 1A hydroxylase