CEP63
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Centrosomal protein of 63 kDa is a protein that in humans is encoded by the CEP63 gene.[5][6] Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.
External IDsOMIM: 614724; MGI: 2158560; HomoloGene: 11861; GeneCards: CEP63; OMA:CEP63 - orthologs
Function
This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells.[6] Recent computational analysis revealed pathogenic property of L61P point mutation in CEP63 protein that affected its native structural conformation.[7]