CYP26B1

CYP26B1 (Cytochrome P450, family 26, subfamily B, polypeptide 1) is a human gene that encodes an enzyme belonging to the cytochrome P450 superfamily. This enzyme is involved in the metabolism of retinoic acid, a derivative of vitamin A that plays a crucial role in cell differentiation, growth, and embryonic development.

Function

The CYP26B1 enzyme is responsible for the hydroxylation of retinoic acid, which leads to its catabolism and clearance from the body. This process is essential for maintaining the appropriate levels of retinoic acid, thereby ensuring proper cellular function and tissue homeostasis. The enzyme is particularly important during embryogenesis, where precise regulation of retinoic acid levels is critical for normal development.

Gene Location

The CYP26B1 gene is located on the short arm (p) of chromosome 2 at position 13.2. The gene spans approximately 37 kilobases and consists of several exons and introns.

Clinical Significance

Mutations in the CYP26B1 gene have been associated with various developmental disorders. For instance, disruptions in the gene can lead to abnormal retinoic acid levels, resulting in congenital malformations and other developmental anomalies. Research is ongoing to better understand the full spectrum of conditions linked to CYP26B1 mutations.

Related Enzymes

CYP26B1 is one of three known enzymes in the CYP26 family, the others being CYP26A1 and CYP26C1. These enzymes share similar functions in retinoic acid metabolism but differ in their tissue distribution and specific roles during development.

Research and Studies

Ongoing research aims to elucidate the detailed mechanisms by which CYP26B1 regulates retinoic acid levels and to explore potential therapeutic targets for conditions resulting from its dysregulation. Studies also focus on the enzyme's role in various cancers and other diseases where retinoic acid signaling is disrupted.

See Also

• Cytochrome P450
• Retinoic acid
• Vitamin A
• Embryonic development
• Chromosome 2