OFD1

Also known as Joubert syndrome type 10, protein 71-7A, oral-facial-digital syndrome 1 protein, OFD1 centriole and centriolar satellite protein

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.

Clinical Trials

1 registered

UNKNOWN
Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 GeneCentre Hospitalier Universitaire Dijon · NCT01962129

via ClinicalTrials.gov

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exact match: purl.uniprot.org/uniprot/O75665

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Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.

Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene (MIM 300377). This region harbors several disease loci, including OFD1 (MIM 311200), CFNS (MIM 304110), DFN6 (MIM 300066), and SEDT (MIM 313400). It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.[supplied by OMIM]