Bio Background |
This gene encodes a member of the cytochrome P450superfamily of enzymes. The cytochrome P450 proteins aremonooxygenases which catalyze many reactions involved in drugmetabolism and synthesis of cholesterol, steroids and other lipids.The protein encoded by this gene localizes to the innermitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3at the 1alpha position. This reaction synthesizes1alpha, 25-dihydroxyvitamin D3, the active form of vitamin D3, whichbinds to the vitamin D receptor and regulates calcium metabolism.Thus this enzyme regulates the level of biologically active vitaminD and plays an important role in calcium homeostasis. Mutations inthis gene can result in vitamin D-dependent rickets type I. |
Bio References |
Giroux, S., et al. Bone 47(5):975-981(2010)Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Holt, S.K., et al. Prostate 70(13):1448-1460(2010)Alzahrani, A.S., et al. J. Clin. Endocrinol. Metab. 95(9):4176-4183(2010)Sundqvist, E., et al. Eur. J. Hum. Genet. (2010) In press : |