Defective CYP26B1 causes RHFCA

Stable Identifier
Homo sapiens
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
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Retinoic acid (RA) is a biologically active analogue of vitamin A (retinol). RA plays an important role in regulating cell growth and differentiation.CYP26A1 and B1 are involved in the metabolic breakdown of RA by 4-hydroxylation. High expression levels of CYP26B1 in the cerebellum and pons of human brain suggests a protective role of specific tissues against retinoid damage (White et al. 2000). Defects in CYP26B1 can cause radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA; MIM:614416), a disease characterised by craniofacial malformations and multiple skeletal anomalies (Laue et al. 2011).

Literature References
PubMed ID Title Journal Year
22019272 Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

Laue, K, Pogoda, HM, Daniel, PB, van Haeringen, A, Alanay, Y, von Ameln, S, Rachwalski, M, Morgan, T, Gray, MJ, Breuning, MH, Sawyer, GM, Sutherland-Smith, AJ, Nikkels, PG, Kubisch, C, Bloch, W, Wollnik, B, Hammerschmidt, M, Robertson, SP

Am. J. Hum. Genet. 2011
10823918 Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism

White, JA, Ramshaw, H, Taimi, M, Stangle, W, Zhang, A, Everingham, S, Creighton, S, Tam, SP, Jones, G, Petkovich, M

Proc Natl Acad Sci U S A 2000
Name Identifier Synonyms
craniosynostosis DOID:2340 Premature closure of cranial sutures
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