CATSPER1 : cation channel sperm associated 1
Description
The CATSPER1 gene, located on chromosome 15, provides instructions for making a protein found in the sperm tail. This protein is crucial for sperm motility, the ability of sperm to move and reach the egg. CATSPER1 is part of a group of genes called the CatSper channels, which form a specialized calcium channel in the sperm tail. Calcium ions flowing through these channels are essential for the whip-like movements of the sperm flagellum, enabling them to navigate the female reproductive tract towards the egg. Mutations in the CATSPER1 gene can lead to impaired sperm motility, resulting in infertility.
Associated Diseases
- Male infertility: CATSPER1 mutations are a significant cause of male infertility, contributing to a reduced number of motile sperm and impaired fertilization.
- Asthenozoospermia: This condition is characterized by a low percentage of motile sperm, a common symptom associated with CATSPER1 gene mutations.
Did you know?
CATSPER1 gene mutations are particularly prevalent in men with a history of recurrent spontaneous abortions.