CYP2R1
cytochrome P450 family 2 subfamily R member 1
Normal Function
Health Conditions Related to Genetic Changes
Vitamin D-dependent rickets
At least four mutations in the CYP2R1 gene have been found to cause vitamin D-dependent rickets type 1B (VDDR1B). 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 CYP2R1 gene mutations that cause this condition severely reduce or eliminate the function of 25-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 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 VDDR1B. Hypocalcemia also causes muscle weakness in some affected individuals.
More About This Health ConditionRelated Conditions
Vitamin D-dependent rickets
Health Conditions Related to Genetic Changes
At least four mutations in the CYP2R1 gene have been found to cause vitamin D-dependent rickets type 1B (VDDR1B). 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 CYP2R1 gene mutations that cause this condition severely reduce or eliminate the function of 25-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 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 VDDR1B. Hypocalcemia also causes muscle weakness in some affected individuals.