CEP43

Chr 6

centrosomal protein 43

Also known as: FGFR1OP, FOP

NCBI Gene: 11116 ENSG00000213066 UniProt: O95684 OMIM: 605392

This gene encodes a centrosomal protein that anchors microtubules to centrosomes and is required for ciliation. Mutations cause myeloproliferative disorder through chromosomal translocations with FGFR1, with inheritance pattern not clearly established from available data. The gene shows low constraint to loss-of-function variants, suggesting tolerance to protein disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…