OFD1
Sign in to saveAlso 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.
Protein · UniProt
Centriole and centriolar satellite protein OFD1
- Gene
- OFD1
- Organism
- Homo sapiens (Human)
- Length
- 1,012 aa
- Molecular mass
- 116,671 Da
- Evidence
- 1: Evidence at protein level
Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis (PubMed:33934390). Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellit…
Swiss-Prot (reviewed) · via UniProt
Clinical Trials
1 registered- UNKNOWNClinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 GeneCentre Hospitalier Universitaire Dijon · NCT01962129
~1 min read
Article
4 sectionsContents
- See also
- References
- External links
- Further reading
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]