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
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

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

Proc Natl Acad Sci U S A 2000
22019272 Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

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

Am. J. Hum. Genet. 2011
Name Identifier Synonyms
craniosynostosis DOID:2340 Premature closure of cranial sutures
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