SPACA4

---

The SPACA4 Gene: Unraveling Its Role in Health and Disease

Introduction

The SPACA4 gene, located on chromosome 4, encodes a protein that plays a crucial role in maintaining the integrity of the sperm's outer membrane. This membrane protects the sperm from damage and enables it to fertilize an egg. Mutations in the SPACA4 gene can disrupt this vital function, leading to infertility and other health conditions.

Function of SPACA4 Protein

The SPACA4 protein is a component of the sperm's outer membrane, known as the acrosome. The acrosome contains enzymes that break down the egg's protective layer, allowing the sperm to penetrate and fertilize it. SPACA4 ensures the stability and fusion of the acrosome, ensuring successful fertilization.

Associated Diseases

Mutations in the SPACA4 gene are primarily associated with infertility. Men with SPACA4 mutations may have difficulty fertilizing an egg, leading to reduced fertility or complete infertility. In some cases, SPACA4 mutations can also cause structural abnormalities in the sperm, further impairing fertility.

Did you Know ?

Studies have shown that SPACA4 mutations are present in approximately 1% of infertile men. This suggests that SPACA4 plays a significant role in male infertility.