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CATSPER1 gene
URL of this page: https://medlineplus.gov/genetics/gene/catsper1/

CATSPER1 gene

cation channel sperm associated 1

Normal Function

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). It is one of four proteins that together form a hole (pore) that allows for the movement of charged calcium atoms (Ca2+) across the sperm cell membrane. Ca2+ is needed for a type of sperm motility called hyperactivation. Hyperactivation is characterized by vigorous movements of the sperm tail, which allow the sperm to push through the membrane of the egg cell during fertilization.

Health Conditions Related to Genetic Changes

CATSPER1-related nonsyndromic male infertility

Variants (also called mutations) in the CATSPER1 gene have been found to cause CATSPER1-related nonsyndromic male infertility. This condition affects the motility of sperm, leading to difficulty conceiving children (a condition called infertility). The variants 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 Ca2+ entry into the sperm cell, which prevents hyperactivation and decreases sperm motility. As a result, sperm are unable to push through the membrane of the egg cell and achieve fertilization. 

More About This Health Condition

Other Names for This Gene

  • cation channel, sperm associated 1
  • CATSPER
  • CTSR1_HUMAN
  • sperm ion channel
  • sperm-associated cation channel 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

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. Citation on PubMed or Free article on PubMed Central
  • Hildebrand MS, Avenarius MR, Smith RJH. CATSPER-Related Male Infertility - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK22925/ Citation on PubMed
  • 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. doi: 10.1111/j.1745-7262.2006.00132.x. Citation on PubMed
  • Manfrevola F, Ferraro B, Sellitto C, Rocco D, Fasano S, Pierantoni R, Chianese R. CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen. Cells. 2021 Jul 31;10(8):1956. doi: 10.3390/cells10081956. Citation on PubMed
  • Singh AP, Rajender S. CatSper channel, sperm function and male fertility. Reprod Biomed Online. 2015 Jan;30(1):28-38. doi: 10.1016/j.rbmo.2014.09.014. Epub 2014 Oct 8. Citation on PubMed

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