SPATA31E1
The spata31e1 Gene: Unraveling its Role in Health and Disease
Description
The spata31e1 gene, located on chromosome 15, encodes a protein known as spermatogenesis-associated protein 31E1. This protein plays a vital role in the development and function of sperm cells. During spermatogenesis, spata31e1 is involved in the formation of the acrosome, a specialized structure at the head of the sperm that contains enzymes necessary for fertilization.
Associated Diseases
Mutations or variations in the spata31e1 gene have been associated with several medical conditions, including:
- Male infertility: Mutations in spata31e1 can lead to impaired sperm production or abnormal sperm function, resulting in infertility.
- Craniofacial anomalies: Some mutations in spata31e1 have been linked to craniofacial abnormalities such as cleft lip and palate.
- Dental irregularities: Mutations in spata31e1 have also been associated with dental irregularities such as missing or malformed teeth.
Did you Know ?
Approximately 1 in 500 men have mutations in the spata31e1 gene that contribute to male infertility.
