TUBB2B gene

tubulin beta 2B class IIb

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

From NCBI Gene:

The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]

From UniProt:

Tubulin is the major constituent of microtubules (PubMed:23001566, PubMed:28013290, PubMed:26732629). 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 (By similarity). Plays a critical role in proper axon guidance in both central and peripheral axon tracts (PubMed:23001566). Implicated in neuronal migration (PubMed:19465910).

From NCBI Gene:

  • Polymicrogyria, asymmetric

From UniProt:

Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7): A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. [MIM:610031]

Defects in TUBB2B may be involved in cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ).

Cytogenetic Location: 6p25.2, which is the short (p) arm of chromosome 6 at position 25.2

Molecular Location: base pairs 3,224,277 to 3,227,653 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 6p25.2, which is the short (p) arm of chromosome 6 at position 25.2
  • bA506K6.1
  • CDCBM7
  • PMGYSA