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
Wikidata facts
- Instance of
- protein
Show 2 more facts
- found in taxon
- Homo sapiens
- exact match
- purl.uniprot.org/uniprot/O75665
via Wikidata · CC0