Gene: METTL1

Alternate names for this Gene: C12orf1|TRM8|TRMT8|YDL201w

Gene Summary: This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.1

Description of this Gene: methyltransferase like 1

Type of Gene: protein-coding

Gene: CYP27B1

Alternate names for this Gene: CP2B|CYP1|CYP1alpha|CYP27B|P450c1|PDDR|VDD1|VDDR|VDDRI|VDR

Gene Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.1

Description of this Gene: cytochrome P450 family 27 subfamily B member 1

Type of Gene: protein-coding