TMEM8C
The TM8C Gene: Unraveling Its Role in Health and Disease
Description
The TM8C gene, located on chromosome 9q31.2, encodes a protein called transmembrane protein 8C. This protein is primarily found on the surface of cells, where it plays a crucial role in various cellular processes, including cell signaling, adhesion, and migration.
Associated Diseases
Mutations in the TM8C gene have been linked to a range of diseases, including:
- Osteoporosis: This is a bone disease characterized by decreased bone mass and increased risk of fractures.
- Renal tubular acidosis: This is a condition in which the kidneys are unable to properly acidify the urine.
- Severe combined immunodeficiency (SCID): This is a rare genetic disorder that affects the immune system, making individuals highly susceptible to infections.
- Nephrotic syndrome: This is a condition characterized by excessive protein loss in the urine.
Did you Know ?
According to research, individuals with certain variants in the TM8C gene have a significantly higher risk of developing osteoporosis. Studies have shown that carriers of a specific mutation in the TM8C gene have a 1.6-fold increased risk of osteoporosis compared to non-carriers.
