CATSPER1

Reviewed April 2010

What is the official name of the CATSPER1 gene?

The official name of this gene is “cation channel, sperm associated 1.”

CATSPER1 is the gene's official symbol. The CATSPER1 gene is also known by other names, listed below.

What is the normal function of the CATSPER1 gene?

The CATSPER1 gene provides instructions for producing a protein that is found in the tail (flagellum) of sperm cells. The CATSPER1 protein plays a role in sperm cell movement (motility) and is required for sperm cells to push through the outside membrane of the egg cell during fertilization. The CATSPER1 protein is embedded in the membrane of sperm cells and is necessary for positively charged calcium atoms (calcium cations) to enter the cell. Calcium cations are required for a type of sperm motility called hyperactivation. Hyperactivation is characterized by vigorous movements of the sperm tail, which are necessary for the sperm to push through the membrane of the egg cell during fertilization.

Does the CATSPER1 gene share characteristics with other genes?

The CATSPER1 gene belongs to a family of genes called CATSPER (cation channels, sperm associated).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the CATSPER1 gene related to health conditions?

CATSPER1-related nonsyndromic male infertility - caused by mutations in the CATSPER1 gene: At least two mutations in the CATSPER1 gene have been found to cause CATSPER1-related nonsyndromic male infertility. These mutations are thought to lead to the production of a CATSPER1 protein that may be altered, nonfunctional, or quickly broken down (degraded) by the cell. A lack of functional CATSPER1 protein impairs calcium entry into the sperm cell, which decreases motility and prevents hyperactivation. Lack of hyperactivation results in sperm that are unable to push through the membrane of the egg cell and achieve fertilization. These sperm abnormalities are the cause of infertility in affected males. Male infertility is the only symptom of CATSPER1-related nonsyndromic male infertility.

Where is the CATSPER1 gene located?

Cytogenetic Location: 11q12.1

Molecular Location on chromosome 11: base pairs 65,784,222 to 65,793,987

The CATSPER1 gene is located on the long (q) arm of chromosome 11 at position 12.1.

More precisely, the CATSPER1 gene is located from base pair 65,784,222 to base pair 65,793,987 on chromosome 11.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CATSPER1?

You and your healthcare professional may find the following resources about CATSPER1 helpful.

Educational resources - Information pages
Developmental Biology (sixth edition, 2000): Action at a Distance: Mammalian Gametes (http://www.ncbi.nlm.nih.gov/books/NBK10010/?rendertype=box&id=A1381)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK22925/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CATSPER1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=117144%5Bgeneid%5D)

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

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(CATSPER1%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/606389)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/117144)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=117144)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=17116)

What other names do people use for the CATSPER1 gene or gene products?

cation channel sperm-associated protein 1
CATSPER
CTSR1_HUMAN
sperm-associated cation channel 1
sperm ion channel

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CATSPER1?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2. (http://www.ncbi.nlm.nih.gov/pubmed/19344877?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/117144)
Li HG, Liao AH, Ding XF, Zhou H, Xiong CL. The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa. Asian J Androl. 2006 May;8(3):301-6. (http://www.ncbi.nlm.nih.gov/pubmed/16625279?dopt=Abstract)
OMIM: CATION CHANNEL, SPERM-ASSOCIATED, 1 (http://omim.org/entry/606389)

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.



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