TCTEX1D4
tctex1d4 Gene: Exploring Its Role in Health and Disease
Description
The tctex1d4 gene, located on chromosome 13, produces a protein known as T-complex testis-expressed protein 1 domain containing 4 (TCtex1d4). This protein is primarily expressed in the testis and plays a crucial role in spermatogenesis, the process of sperm production. TCtex1d4 is involved in the formation of the fibrous sheath that surrounds the sperm's head, ensuring its proper structural support and functionality.
Associated Diseases
Mutations in the tctex1d4 gene have been associated with the following conditions:
- Male Infertility: Alterations in tctex1d4 can disrupt spermatogenesis, leading to reduced sperm count, abnormal sperm morphology, and impaired sperm motility, ultimately resulting in male infertility.
- Congenital Heart Defects: Certain variants in tctex1d4 have been linked to an increased risk of congenital heart defects, particularly those involving the atrial septum.
- Neural Tube Defects: Mutations in tctex1d4 have been implicated in an increased susceptibility to neural tube defects, such as spina bifida and anencephaly.
Did you Know ?
Approximately 5-10% of infertile men have mutations in the tctex1d4 gene, highlighting its significant contribution to male reproductive health.
