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TUBA8
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TUBA8

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

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What is the official name of the TUBA8 gene?

The official name of this gene is “tubulin, alpha 8.”

TUBA8 is the gene's official symbol. The TUBA8 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TUBA8 gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the TUBA8 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the TUBA8 gene's known or predicted involvement in human disease.

Polymicrogyria, with optic nerve hypoplasia (PMGONH)[1]This link leads to a site outside Genetics Home Reference.: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TUBA8 gene.
  • Polymicrogyria with optic nerve hypoplasia[1]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]613180This link leads to a site outside Genetics Home Reference.POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
605742This link leads to a site outside Genetics Home Reference.TUBULIN, ALPHA-8

Where is the TUBA8 gene located?

Cytogenetic Location: 22q11.1

Molecular Location on chromosome 22: base pairs 18,593,452 to 18,614,497

The TUBA8 gene is located on the long (q) arm of chromosome 22 at position 11.1.

The TUBA8 gene is located on the long (q) arm of chromosome 22 at position 11.1.

More precisely, the TUBA8 gene is located from base pair 18,593,452 to base pair 18,614,497 on chromosome 22.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TUBA8?

You and your healthcare professional may find the following resources about TUBA8 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TUBA8 gene or gene products?

  • TUBAL2

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TUBA8?

alternate splicing ; corpus callosum ; developmental delay ; gene ; GTP ; hypoplasia ; hypotonia ; malformation ; optic nerve ; protein ; splicing ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: May 20, 2013