CYP26B1

CYP26B1 is a gene that encodes a member of the cytochrome P450 superfamily of enzymes. These enzymes are involved in the metabolism of a wide variety of organic compounds, including steroids, fatty acids, and xenobiotics. The CYP26B1 enzyme specifically plays a crucial role in the retinoic acid signaling pathway, which is essential for embryonic development and cellular differentiation. It functions as a retinoic acid hydroxylase, catalyzing the degradation of retinoic acid.

Mutations in the CYP26B1 gene have been associated with several congenital disorders, most notably braod-type syndactyly with or without developmental delay. This condition is characterized by a combination of limb malformations, particularly fused fingers and toes, and varying degrees of intellectual disability. The disruption of retinoic acid metabolism due to faulty CYP26B1 function leads to abnormal signaling, impacting the precise developmental processes required for normal limb formation and brain development. Research into CYP26B1 continues to explore its precise functions and the full spectrum of conditions that may arise from its dysfunction.