SPATA25
Unlocking the Secrets of the SPATA25 Gene: A Comprehensive Guide
Description
SPATA25 (Spermatogenesis Associated 25) is a gene located on chromosome 14 in humans. It plays a crucial role in spermatogenesis, the process by which sperm cells are formed. SPATA25 is expressed in the testes and is involved in the formation of the sperm flagellum, which enables sperm to swim and fertilize an egg.
Associated Diseases
Mutations in the SPATA25 gene have been linked to several reproductive disorders:
- Primary Ciliary Dyskinesia (PCD): A rare genetic disorder that affects the function of cilia, tiny hair-like structures found in the lungs, sinuses, and other organs. PCD can cause infertility in males due to impaired sperm motility.
- Multiple Morbidity Syndrome (MMS): A rare syndrome characterized by a constellation of health problems, including infertility, cognitive difficulties, and skeletal abnormalities. MMS is caused by mutations in multiple genes, including SPATA25.
- Infertility: SPATA25 mutations have also been implicated in cases of idiopathic (unexplained) male infertility.
Did you Know ?
Approximately 10-20% of cases of PCD are caused by mutations in the SPATA25 gene.
