SPA17
SPA17 Gene: Unveiling the Role in Disease and Health
The spa17 gene, a crucial player in cellular processes, has gained considerable attention in the scientific community for its intricate involvement in diverse biological functions and its association with various diseases. Let's dive into the details of this fascinating gene and explore its multifaceted nature.
Description
The spa17 gene, located on chromosome 22, encodes a protein known as spermatogenesis-associated protein 17. This protein plays a vital role in the assembly and organization of the sperm flagellum, a tail-like structure essential for sperm motility and fertilization.
Associated Diseases
Dysfunction of the spa17 gene has been linked to several medical conditions, including:
- Primary Ciliary Dyskinesia (PCD): A rare genetic disorder characterized by impaired function of cilia, tiny hair-like structures that line various organs and play a role in mucus clearance and propulsion.
- Sperm Immotility and Infertility: Abnormalities in the spa17 gene can lead to impaired sperm motility, resulting in infertility in men.
- Congenital Heart Defects (CHDs): The spa17 protein has been implicated in the formation of embryonic heart structures, and its mutations can contribute to CHDs.
- Neurodevelopmental Disorders: Some studies suggest associations between spa17 gene variants and neurodevelopmental disorders such as autism spectrum disorder (ASD).
Did you Know ?
Approximately 1 in 50,000 individuals is affected by PCD, a disorder associated with spa17 gene mutations. This statistic highlights the prevalence of this condition and the impact of spa17 gene defects on human health.
