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Genes in this family provide instructions for making proteins called tubulins. This family includes five groups of tubulin genes: alpha (α), beta (β), gamma (γ), delta (δ), and epsilon (ε). The α and β groups are by far the largest, with nearly 10 members each. Multiple α- and β-tubulins attach (bind) to each other to form microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). The γ-tubulins promote binding of the α- and β-tubulins.
The movement of microtubules is necessary for the division and movement of cells. Microtubules move when α- and β-tubulin proteins are transferred from one end of a microtubule to the other, propelling the fiber in a specific direction.
Not much is known about the remaining tubulins; it is likely that δ-tubulin is involved in the formation of sperm (spermatogenesis) and that ε-tubulin plays a role in cell division. It is unclear what role, if any, these proteins play in microtubule function.
Mutations in certain tubulin genes can lead to problems in microtubule function that typically affect brain development. For example, mutations in the α-tubulin gene TUBA1A can cause several brain abnormalities including a condition called isolated lissencephaly sequence, which is characterized by severe neurological impairment due to underdevelopment of the brain. TUBA1A gene mutations disrupt brain development by reducing the microtubules' ability to move nerve cells in the brain.
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the TUB family (http://www.genenames.org/genefamilies/TUB).
Genetics Home Reference summarizes the normal function and health implications of this member of the TUB gene family: TUBA1A.
Genetics Home Reference includes these conditions related to genes in the TUB gene family:
You may find the following resources about the TUB gene family helpful.
cell ; cell division ; cytoskeleton ; gene ; microtubule ; neurological ; sperm ; spermatogenesis
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the TUB gene family.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.