Title : Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.

Pub. Date : 2011 Nov 11

PMID : 22019272






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 We have identified human null and hypomorphic mutations in the gene encoding the RA-degrading enzyme CYP26B1 that lead to skeletal and craniofacial anomalies, including fusions of long bones, calvarial bone hypoplasia, and craniosynostosis. Tretinoin cytochrome P450 family 26 subfamily B member 1 Homo sapiens