CXORF5
MIM.311200
Etiology
mutations in CXORF5 gene in orofaciodigital syndrome type 1 (OFD1)
- CXORF5 was identified by positional cloning, and its product localizes to basal bodies of polarized renal epithelial cells.
- Although this is the first gene identified in CDK that is associated with facial and dental malformations, its gene product, again, fulfils the rule of centrosomal expression.
See also
cilium and basal body
ciliary proteins