Aliases for CEP350 Gene
External Ids for CEP350 Gene
Previous GeneCards Identifiers for CEP350 Gene
The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for CEP350 Gene
CEP350 (Centrosomal Protein 350) is a Protein Coding gene. Diseases associated with CEP350 include Epidermal Appendage Tumor and Seckel Syndrome 7. Gene Ontology (GO) annotations related to this gene include microtubule binding.
UniProtKB/Swiss-Prot Summary for CEP350 Gene
Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385).