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FLASH GENE

Symbol

CYP26B1

contributors: mct - updated : 16-11-2014

HGNC name	cytochrome P450, family 26, subfamily B, polypeptide 1
HGNC id	20581

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       null and hypomorphic mutations leading to skeletal and craniofacial anomalies, including fusions of long bones, calvarial bone hypoplasia, and craniosynostosis constitutional       loss of function deficiency in CYP26B1 action particularly impacts skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	at embryonic day (E) 18.5 Cyp26b1(-/-) animals exhibit a truncated mandible, abnormal tooth buds, reduced ossification of calvaria, and are missing structures of the maxilla and nasal process
	null and hypomorphic zebrafish cyp26b1 mutants, named dolphin (dol) and stocksteif (sst), display deficiencies in midline cartilaginous structures and hypermineralized facial and axial bones