TUBGCP4 tubulin gamma complex component 4
Gene ID: 27229, updated on 3-Apr-2024Gene type: protein coding
Also known as: 76P; GCP4; GCP-4; Grip76; MCCRP3
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- Go to complete Gene record for TUBGCP4
- Go to Variation Viewer for TUBGCP4 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Microcephaly and chorioretinopathy 3 | See labs |
Genomic context
- Location:
- 15q15.3
- Sequence:
- Chromosome: 15; NC_000015.10 (43371101..43409771)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TUBGCP4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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