Aliases for CEP43 Gene
External Ids for CEP43 Gene
Previous HGNC Symbols for CEP43 Gene
This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
GeneCards Summary for CEP43 Gene
CEP43 (Centrosomal Protein 43) is a Protein Coding gene. Diseases associated with CEP43 include Graves' Disease and Crohn's Disease. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.
UniProtKB/Swiss-Prot Summary for CEP43 Gene
Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).