OFD1

OFD1

A gene on chromosome Xp22 that encodes a centrosomal protein involved in the ciliogenesis.

Molecular pathology
OCRL mutations cause oculocerebrorenal syndrome of Lowe and Dent disease.
References in periodicals archive ?
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
11 Horsfall protein Other Diseases With Cystic Renal Phenotype X-linked OFD1 Chromosome X open orofaciodigital Xp22.
OFD1 is mutated in X- linked Joubert syndrome and interacts with LCA5-encoded lebercilin.