What are the genetic changes related to CATSPER1-related nonsyndromic male infertility ?
Mutations in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cells to push through the outside membrane of the egg cell during fertilization.  CATSPER1 gene mutations result in the production of a CATSPER1 protein that may be altered, nonfunctional, or quickly broken down (degraded) by the cell. Sperm cells missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. Sperm cells lacking functional CATSPER1 protein cannot push through the outside membrane of the egg cell. As a result, sperm cells cannot reach the inside of the egg cell to achieve fertilization.