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.

Full Name

TUBGCP4 Gene(Protein Coding)

Tubulin Gamma Complex Associated Protein 4

Function

Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

Biological Process

Biological Process cytoplasmic microtubule organization Source:GO_Central1 Publication
Biological Process meiotic cell cycle Source:GO_Central1 Publication
Biological Process microtubule nucleation Source:GO_Central1 Publication
Biological Process mitotic cell cycle Source:GO_Central1 Publication
Biological Process protein-containing complex assembly Source:ProtInc1 Publication
Biological Process spindle assembly Source:GO_Central1 Publication

Cellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome

Involvement in disease

Microcephaly and chorioretinopathy, autosomal recessive, 3 (MCCRP3):
A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties.