Gene Symbol | TUBGCP4 |
Entrez Gene ID | 27229 |
Full Name | tubulin gamma complex associated protein 4 |
Synonyms | 76P,GCP-4,GCP4,Grip76,MCCRP3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, May 2015]. |
Disorder MIM: | |
Disorder Html: | Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3) |