BCMO1 Antibody – Rabbit Polyclonal

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]

BCMO1: Symmetrically cleaves beta-carotene into two molecules of retinal. The reaction proceeds in three stages, epoxidation of the 15,15'-double bond, hydration of the double bond leading to ring opening, and oxidative cleavage of the diol formed. Defects in BCMO1 are the cause of autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD). Vitamin A is essential for normal embryonic development as well as normal physiological functions in children and adults. Hypercarotenemia is characterized by an excess carotene in the serum, but unlike excess vitamin A, carotene is non-toxic. So far, only a few cases of excess vitamin A have been reported. Individuals were thought to be vitamin A deficient due to an impairment in the conversion of carotenoids to retinal in the intestine. Belongs to the carotenoid oxygenase family.

Protein type: Cofactor and Vitamin Metabolism - retinol; EC 1.14.99.36; Oxidoreductase

Chromosomal Location of Human Ortholog: 16q23.2

Cellular Component: cytosol

Molecular Function: beta-carotene 15,15'-monooxygenase activity; metal ion binding; monooxygenase activity

Biological Process: phototransduction, visible light; vitamin A biosynthetic process; retinal metabolic process; retinol metabolic process; retinoid metabolic process

Disease: Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant