SLC26A6
Unveiling the SLC26A6 Gene: A Deep Dive into Its Role in Health and Disease
Introduction
The SLC26A6 gene, residing on chromosome 19q13.12, encodes a solute carrier protein that plays a crucial role in the transport of chloride, bicarbonate, and other ions across cell membranes. Its precise functioning is essential for maintaining cellular homeostasis and regulating physiological processes.
Associated Diseases
Mutations in the SLC26A6 gene have been linked to several human diseases, including:
- Congenital Chloride Diarrhea (CLD): A rare autosomal recessive disorder characterized by severe watery diarrhea and electrolyte imbalance.
- Pendred Syndrome: An autosomal recessive disorder that causes hearing loss and thyroid enlargement, often with abnormalities in the inner ear.
- Hypothyroidism: A condition in which the thyroid gland does not produce enough thyroid hormone, leading to various symptoms such as fatigue, weight gain, and cold intolerance.
Did you Know ?
In a study published in the journal JAMA, it was estimated that approximately 1 in 25,000 newborns worldwide are affected by congenital chloride diarrhea, highlighting the significant impact of SLC26A6 gene mutations on human health.
