TMEM5
The tmem5 Gene: A Key Player in Brain Development and Neurodegenerative Diseases
Description
The tmem5 gene, also known as transmembrane protein 5, is located on chromosome 7q11.23. It encodes a protein that plays a crucial role in the development and function of the central nervous system (CNS). TMEM5 is involved in various cellular processes, including membrane trafficking, cell adhesion, and signal transduction.
Associated Diseases
Mutations in the tmem5 gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal neurodegenerative disease characterized by progressive muscle weakness and paralysis. Mutations in tmem5 have been found in approximately 10% of familial ALS cases.
- Parkinson's disease (PD): PD is a neurodegenerative disease characterized by tremors, rigidity, and impaired movement. Mutations in tmem5 have been associated with late-onset PD.
- Frontotemporal dementia (FTD): FTD is a group of neurodegenerative diseases that affect the frontal and temporal lobes of the brain, leading to changes in behavior, personality, and language abilities. Mutations in tmem5 have been identified in some forms of FTD.
Did you Know ?
A study published in the journal "Nature Genetics" found that individuals with mutations in the tmem5 gene have a 15-fold increased risk of developing ALS. This highlights the significant role of TMEM5 in the pathogenesis of ALS.
