Gene: TUBB1

Alternate names for this Gene: -

Gene 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.32

Description of this Gene: tubulin beta 1 class VI

Type of Gene: protein-coding

rs121918555 in TUBB1 gene and Macrothrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121918555 in TUBB1 gene and Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related PMID 18849486 2009 Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.

rs139473150 in TUBB1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11471957 in TUBB1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11471957 in TUBB1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs463312 in TUBB1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs62205397 in TUBB1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.