TMEM2
The tmem2 Gene: A Comprehensive Guide
Introduction
The tmem2 gene, also known as transmembrane protein 2, encodes a protein involved in various cellular processes, including ion transport, cell signaling, and apoptosis. This gene plays a crucial role in maintaining cellular homeostasis and has been linked to several diseases.
Description
The tmem2 gene is located on chromosome 17q21.3 and consists of 10 exons and 9 introns. It spans approximately 80 kilobases and encodes a protein of 262 amino acids. The tmem2 protein is an integral membrane protein that contains four transmembrane domains and glycosylation sites. It is localized to the plasma membrane and the endoplasmic reticulum.
Associated Diseases
Mutations in the tmem2 gene have been associated with several diseases, including:
- Spinocerebellar ataxia type 36 (SCA36): A rare neurodegenerative disorder characterized by progressive incoordination, speech difficulties, and eye movement abnormalities.
- Parkinson's disease: A common neurodegenerative disorder that affects movement and balance.
- Amyotrophic lateral sclerosis (ALS): A fatal neurodegenerative disorder that attacks motor neurons, causing muscle weakness and paralysis.
- Multiple sclerosis (MS): A chronic autoimmune disorder that affects the central nervous system, leading to a variety of symptoms, including vision problems, numbness, and fatigue.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by SCA36, making it one of the rarest types of spinocerebellar ataxia.
