Protein Name OFD1, centriole and centriolar satellite protein
Organism Mus musculus
Gene ID 237222
Gene Symbol

Ofd1

UniProt Q80Z25 (OFD1_MOUSE), A2AEG2 (A2AEG2_MOUSE), Q3URP3 (Q3URP3_MOUSE)
Relationships Total Number of functionally related compound(s) : 10
Total Number of Articles : 6
Description

OFD1, centriole and centriolar satellite protein

Gene Summary

Enables alpha-tubulin binding activity and gamma-tubulin binding activity. Involved in several processes, including embryonic body morphogenesis; epithelial cilium movement involved in determination of left/right asymmetry; and negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation. Acts upstream of or within axoneme assembly. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including brain; forelimb; limb bud; reproductive system; and sensory organ. Used to study orofaciodigital syndrome I. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein). [provided by Alliance of Genome Resources, Jun 2025]

synonyms
  • centriole and centriolar satellite protein OFD1
  • oral-facial-digital syndrome 1 gene homolog
  • oral-facial-digital syndrome 1 protein homolog
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Properties