CYP26B1 Peptide - N-Terminal Region Blocking Peptide

This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

CYP26B1: Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH- RA. Esential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints. Defects in CYP26B1 are the cause of radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA). A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. Belongs to the cytochrome P450 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; Cell development/differentiation; Cofactor and Vitamin Metabolism - retinol; EC 1.14.-.-

Chromosomal Location of Human Ortholog: 2p13.2

Cellular Component: endoplasmic reticulum membrane; cytoplasm

Molecular Function: retinoic acid binding; iron ion binding; retinoic acid 4-hydroxylase activity; heme binding

Biological Process: retinoic acid receptor signaling pathway; negative regulation of retinoic acid receptor signaling pathway; tongue morphogenesis; vitamin metabolic process; xenobiotic metabolic process; spermatogenesis; cell fate determination; male meiosis; proximal/distal pattern formation; embryonic limb morphogenesis

Disease: Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies