Protein Name | OFD1, centriole and centriolar satellite protein |
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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 |
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