CEP43, Official Symbol CEP43provided by HGNC Official Full Name centrosomal protein 43provided by HGNC Primary source HGNC:HGNC:17012 See related Ensembl:ENSG00000213066 MIM:605392; AllianceGenome:HGNC:17012 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FOP; FGFR1OP Summary 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] Expression Broad expression in testis (RPKM 19.6), adrenal (RPKM 5.3) and 24 other tissues See more Orthologs mouse all