CMTM2
CTMT2: An Essential Gene for Sperm Maturation and Male Fertility
Description
CTMT2 (CKLF-like MARVEL transmembrane domain-containing 2) is a gene that encodes a protein essential for the maturation and function of sperm. It is located on the X chromosome and plays a crucial role in sperm head development and motility.
During sperm maturation, CTMT2 protein is involved in the formation and organization of the acrosome, a specialized structure at the tip of the sperm head that contains enzymes necessary for penetrating the egg. CTMT2 also contributes to the development of the sperm flagellum, the tail that propels the sperm during fertilization.
Associated Diseases
Mutations in the CTMT2 gene have been linked to male infertility. These mutations can lead to defects in sperm development and function, resulting in reduced sperm motility, abnormal sperm morphology, and impaired fertilization ability.
Male individuals with CTMT2 mutations can experience a range of fertility problems, including:
- Azoospermia (absence of sperm in semen)
- Oligospermia (low sperm count)
- Asthenospermia (reduced sperm motility)
- Teratozoospermia (abnormal sperm morphology)
Did you Know ?
Approximately 1% of men with severe male infertility have mutations in the CTMT2 gene. This highlights the importance of CTMT2 in sperm development and male reproductive health.
