Anti-CYP2R1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

CYP2R1 also known as Cytochrome P450 2R1 functions as a microsomal enzyme playing a major role in the hydroxylation of vitamin D. It catalyzes the conversion of vitamin D to 25-hydroxyvitamin D a form needed for further activation to the biologically active version. The protein has a known molecular mass of about 55 kDa. CYP2R1 is expressed in the liver which is important for its function owing to the liver's role in metabolizing vitamin D.

Biological function summary

CYP2R1 participates in the metabolic pathway to synthesize the active form of vitamin D. Although not part of a larger complex its activity serves a critical function in maintaining calcium homeostasis and bone health by mediating vitamin D metabolism. This process enables the regulation of calcium and phosphate essential for proper bone formation and maintenance.

Pathways

CYP2R1 plays an integral role in the vitamin D signaling pathway which is important for its metabolic conversion. Another related pathway is the cytochrome P450 metabolic pathway where CYP enzymes collaborate in synthesis and degradation processes. Within these pathways CYP2R1 interacts with other proteins such as CYP27B1 which further converts 25-hydroxyvitamin D to its active form.

Associated diseases and disorders

CYP2R1's function deficiencies can directly relate to bone diseases like rickets or osteomalacia caused by insufficient vitamin D activation leading to bone weakening. Additionally mutations in the CYP2R1 gene can result in vitamin D-dependent rickets type 1B (VDDR1B) a hereditary disorder. The protein also shows an association with CYP27B1 in these conditions highlighting its importance in bone mineralization functions.