Gene: TUBGCP4

Alternate names for this Gene: 76P|GCP-4|GCP4|Grip76|MCCRP3

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.3

Description of this Gene: tubulin gamma complex associated protein 4

Type of Gene: protein-coding

rs201393666 in TUBGCP4 gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs148149124 in TUBGCP4 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs148149124 in TUBGCP4 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.