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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).
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the CATSPER gene family: CATSPER1 and CATSPER2.
Genetics Home Reference includes these conditions related to genes in the CATSPER gene family:
You may find the following resources about the CATSPER gene family helpful.
calcium ; cation ; cell ; channel ; egg ; gene ; infertility ; sperm
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the CATSPER 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.