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Genetics Home Reference: your guide to understanding genetic conditions
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TUB gene family

Reviewed August 2013

What are the TUB genes?

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.

Which genes are included in the TUB gene family?

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.

What conditions are related to genes in the TUB gene family?

Genetics Home Reference includes these conditions related to genes in the TUB gene family:

  • isolated lissencephaly sequence
  • lissencephaly with cerebellar hypoplasia

Where can I find additional information about the TUB gene family?

You may find the following resources about the TUB gene family helpful.

  • Molecular Cell Biology (fourth edition, 2000): Heterodimeric Tubulin Subunits Compose the Wall of a Microtubule (http://www.ncbi.nlm.nih.gov/books/NBK21580/)
  • Molecular Cell Biology (fourth edition, 2000): The γ-Tubulin Ring Complex Nucleates Polymerization of Tubulin Subunits (http://www.ncbi.nlm.nih.gov/books/NBK21580/)
  • Molecular Biology of the Cell (fourth edition, 2002): Microtubules Are Nucleated by a Protein Complex Containing γ-tubulin (http://www.ncbi.nlm.nih.gov/books/NBK26809/)
  • The Cell: A Molecular Approach (second edition, 2000): Microtubules (http://www.ncbi.nlm.nih.gov/books/NBK9932/)

What glossary definitions help with understanding the TUB gene family?

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).

References

These sources were used to develop the Genetics Home Reference summary for the TUB gene family.

  • McKean PG, Vaughan S, Gull K. The extended tubulin superfamily. J Cell Sci. 2001 Aug;114(Pt 15):2723-33. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11683407?dopt=Abstract)
  • Khodiyar VK, Maltais LJ, Ruef BJ, Sneddon KM, Smith JR, Shimoyama M, Cabral F, Dumontet C, Dutcher SK, Harvey RJ, Lafanechère L, Murray JM, Nogales E, Piquemal D, Stanchi F, Povey S, Lovering RC. A revised nomenclature for the human and rodent alpha-tubulin gene family. Genomics. 2007 Aug;90(2):285-9. Epub 2007 Jun 1. Erratum in: Genomics. 2009 Apr;93(4):397. Ruef, Barbara J [added]. (http://www.ncbi.nlm.nih.gov/pubmed/17543498?dopt=Abstract)
  • Wise DO, Krahe R, Oakley BR. The gamma-tubulin gene family in humans. Genomics. 2000 Jul 15;67(2):164-70. (http://www.ncbi.nlm.nih.gov/pubmed/10903841?dopt=Abstract)
  • Chang P, Stearns T. Delta-tubulin and epsilon-tubulin: two new human centrosomal tubulins reveal new aspects of centrosome structure and function. Nat Cell Biol. 2000 Jan;2(1):30-5. (http://www.ncbi.nlm.nih.gov/pubmed/10620804?dopt=Abstract)

 

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.

 
Reviewed: August 2013
Published: July 7, 2014