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CATSPER1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CATSPER1 gene

The CATSPER1 gene provides instructions for producing a protein essential for sperm motility and the fertilization process.

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.

Other Names for This Gene

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

Genomic Location

The CATSPER1 gene is found on chromosome 11.

Frequently Asked Questions

Yes. Rare loss‑of‑function variants in CATSPER1 can impair the calcium channel needed for sperm hyperactivation, leading to markedly reduced progressive motility even when sperm count is normal.
CATSPER1 mutations are typically autosomal recessive; if you carry two pathogenic copies, your partner is not at risk. However, if you are a carrier (one mutated allele) and your partner is also a carrier, there is a 25 % chance of an affected child, so carrier testing may be considered in families with a known mutation.
t present, there is no therapy to restore the defective channel. Management focuses on assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI), which can bypass the need for hyperactivated motility.
Genetic testing usually involves a targeted sequencing panel for male infertility genes or whole‑exome sequencing; the lab looks for pathogenic variants in CATSPER1 and may also assess protein expression in sperm by immunofluorescence if available.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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