Anti-TUBGCP4

This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants.TUBGCP4 (Tubulin Gamma Complex Associated Protein 4) is a Protein Coding gene. Diseases associated with TUBGCP4 include Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 and Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is TUBGCP6. Protein function: Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. [The UniProt Consortium]