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

Reviewed April 2010

What are the CATSPER genes?

Genes in the CatSper channels family provide instructions for making proteins that are embedded in the membrane of sperm cells. These proteins are channels that regulate the entry of positively charged calcium atoms (calcium cations) into sperm cells. Calcium cations are required for a type of sperm motility called hyperactivation. Hyperactivation is characterized by vigorous movements of the sperm tail (flagellum), which are necessary for the sperm to push through the membrane of the egg cell during fertilization.

Mutations in genes in the CatSper channels gene family can result in sperm abnormalities and an inability to father children (male infertility).

Which genes are included in the CATSPER gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the CATSPER family (http://www.genenames.org/genefamilies/VGIC).

Genetics Home Reference summarizes the normal function and health implications of these members of the CATSPER gene family: CATSPER1 and CATSPER2.

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

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

  • CATSPER1-related nonsyndromic male infertility
  • sensorineural deafness and male infertility

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

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

  • Developmental Biology (sixith edition, 2000): Action at a Distance: Mammalian Gametes (http://www.ncbi.nlm.nih.gov/books/NBK10010/box/A1381/)

What glossary definitions help with understanding the CATSPER gene family?

calcium ; cation ; cell ; channel ; egg ; gene ; infertility ; sperm

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 CATSPER gene family.

  • Jin JL, O'Doherty AM, Wang S, Zheng H, Sanders KM, Yan W. Catsper3 and catsper4 encode two cation channel-like proteins exclusively expressed in the testis. Biol Reprod. 2005 Dec;73(6):1235-42. Epub 2005 Aug 17. (http://www.ncbi.nlm.nih.gov/pubmed/16107607?dopt=Abstract)
  • Liu J, Xia J, Cho KH, Clapham DE, Ren D. CatSperbeta, a novel transmembrane protein in the CatSper channel complex. J Biol Chem. 2007 Jun 29;282(26):18945-52. Epub 2007 May 3. (http://www.ncbi.nlm.nih.gov/pubmed/17478420?dopt=Abstract)
  • Qi H, Moran MM, Navarro B, Chong JA, Krapivinsky G, Krapivinsky L, Kirichok Y, Ramsey IS, Quill TA, Clapham DE. All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility. Proc Natl Acad Sci U S A. 2007 Jan 23;104(4):1219-23. Epub 2007 Jan 16. (http://www.ncbi.nlm.nih.gov/pubmed/17227845?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: April 2010
Published: October 20, 2014