CATSPER1
Developmental stage
Expressed meiotically and post-meiotically.
Function
Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.
Involvement in disease
Spermatogenic failure 7
SPGF7
An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
Tissue Specificity
Testis-specific.
Cellular localization
- Cell projection
- Cilium
- Flagellum membrane
- Multi-pass membrane protein
- Specifically located in the principal piece of the sperm tail.
Alternative names
Cation channel sperm-associated protein 1, CatSper1, hCatSper, CATSPER1