TMEM230
Exploring the Intriguing World of the TMEM230 Gene
Description
The TMEM230 gene, spanning over 140,000 base pairs on human chromosome 15, encodes a protein called transmembrane protein 230. This protein is located in the endoplasmic reticulum, an organelle responsible for protein folding and trafficking. TMEM230 plays a crucial role in maintaining the integrity of cellular processes by ensuring the proper formation and function of other proteins.
Associated Diseases
Mutations in the TMEM230 gene have been linked to several debilitating conditions, including:
- Amyotrophic lateral sclerosis (ALS): A fatal neurodegenerative disease characterized by the progressive loss of motor neurons, leading to muscle weakness and atrophy.
- Frontotemporal dementia (FTD): A type of dementia that affects the frontal and temporal lobes of the brain, leading to changes in personality, behavior, and language.
- Parkinson's disease: A neurodegenerative disorder characterized by tremors, rigidity, and bradykinesia, often due to the loss of dopamine-producing neurons in the brain.
Did you Know ?
According to recent research, the TMEM230 gene is estimated to harbor mutations in up to 10% of individuals with ALS. This highlights its significant role in the development of this devastating condition.
