TMEM206
The tmem206 Gene: A Comprehensive Guide
Introduction
The tmem206 gene, located on chromosome 16, encodes a transmembrane protein involved in cellular signaling and regulation. Recent research has shed light on its multifaceted role in various physiological processes and disease development.
Description
TMEM206, also known as the transmembrane protein 206, is a six-transmembrane domain protein that spans the cell membrane. It contains an extracellular N-terminus, a cytoplasmic C-terminus, and a short intra-membrane loop. The protein plays a crucial role in regulating calcium influx and maintaining cellular homeostasis.
Associated Diseases
Mutations in the tmem206 gene have been linked to several human diseases, including:
- Charcot-Marie-Tooth disease type 2: A group of inherited neurological disorders characterized by progressive muscle weakness and wasting in the hands and feet.
- Deafness: Certain mutations in tmem206 have been associated with sensorineural hearing loss, especially in children.
- Ataxia: A neurological condition characterized by difficulty with coordination, balance, and fine motor control.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by Charcot-Marie-Tooth disease, which is caused by mutations in various genes, including tmem206.
