TUBGCP4 gene

tubulin gamma complex associated protein 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, May 2015]

From UniProt:

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

From NCBI Gene:

  • Microcephaly and chorioretinopathy, autosomal recessive, 3

From UniProt:

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. [MIM:616335]

Cytogenetic Location: 15q15, which is the long (q) arm of chromosome 15 at position 15

Molecular Location: base pairs 43,371,059 to 43,409,771 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q15, which is the long (q) arm of chromosome 15 at position 15
  • 76P
  • GCP-4
  • GCP4
  • Grip76
  • MCCRP3