TUBB1 tubulin beta 1 class VI
Gene ID: 81027, updated on 4-Jan-2025Gene type: protein coding
Also known as: MACTHC1
- See all available tests in GTR for this gene
- Go to complete Gene record for TUBB1
- Go to Variation Viewer for TUBB1 variants
Summary
This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. GeneReviews: Not available | |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | See labs |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 20q13.32
- Sequence:
- Chromosome: 20; NC_000020.11 (59016438..59026654)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TUBB1 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
- TUBB1 database
- Variation ViewerRelated Variants
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