CYP7B1

CYP7B1, also known as cytochrome P450 family 7 subfamily B member 1, is a gene that encodes a protein involved in steroid metabolism. This enzyme belongs to the cytochrome P450 superfamily, a group of heme-containing enzymes that play crucial roles in the synthesis, modification, and degradation of various endogenous and exogenous compounds. The CYP7B1 protein is primarily expressed in the liver and adrenal glands.

The primary known function of CYP7B1 is its role in the metabolism of vitamin D. It catalyzes the hydroxylation of 25-hydroxyvitamin D3 to form 1,25-dihydroxyvitamin D3, which is the active form of vitamin D. This process is essential for calcium and phosphate homeostasis, bone health, and immune function. Beyond vitamin D metabolism, CYP7B1 has also been implicated in the metabolism of bile acids and certain steroid hormones.

Mutations in the CYP7B1 gene have been associated with a rare genetic disorder known as X-linked adrenoencephalopathy, a severe neurodegenerative condition characterized by intellectual disability, adrenal insufficiency, and progressive neurological deterioration. Research into the precise mechanisms by which CYP7B1 dysfunction leads to these pathologies is ongoing, highlighting its importance in normal physiological processes and the detrimental consequences of its disruption.