Oro-fazio-digitales Syndrom Typ 1

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…

• 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

Wikidata facts

Instance of

protein

via Wikidata · CC0