TUBB1 gene

tubulin beta 1 class VI

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

From NCBI Gene:

  • MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED

From UniProt:

Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1): A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. [MIM:613112]

Cytogenetic Location: 20q13.32, which is the long (q) arm of chromosome 20 at position 13.32

Molecular Location: base pairs 59,016,026 to 59,026,654 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.32, which is the long (q) arm of chromosome 20 at position 13.32