TMEM136
The TMEM136 Gene: Unraveling Its Role in Human Health and Disease
Description
The TMEM136 gene, located on chromosome 11q13.3, encodes a transmembrane protein called Transmembrane Protein 136 (TMEM136). This protein is composed of 116 amino acids and is primarily found in the Golgi apparatus and plasma membrane of eukaryotic cells.
Associated Diseases
Variants and mutations in the TMEM136 gene have been linked to several diseases, including:
- Oculopharyngeal Muscular Dystrophy (OPMD): This genetic disorder causes progressive weakness and wasting of muscles around the eyes and mouth.
- Amyotrophic Lateral Sclerosis (ALS): A neurodegenerative disease that affects motor neurons, leading to muscle weakness and paralysis.
- Cancer: TMEM136 has been implicated in the development and progression of certain cancers, such as prostate cancer and lung cancer.
Did you Know ?
A large-scale genetic study involving over 10,000 individuals found that mutations in the TMEM136 gene are present in approximately 1% of the population, making it one of the most common genetic risk factors for OPMD.
