TUBA8 gene

tubulin alpha 8

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

From NCBI Gene:

This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [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:

  • Polymicrogyria with optic nerve hypoplasia

From UniProt:

Polymicrogyria, with optic nerve hypoplasia (PMGONH): A disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is 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:613180]

Cytogenetic Location: 22q11.1, which is the long (q) arm of chromosome 22 at position 11.1

Molecular Location: base pairs 18,110,687 to 18,131,731 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q11.1, which is the long (q) arm of chromosome 22 at position 11.1
  • TUBAL2