TMEM95
The tmem95 Gene: Unraveling Its Role in Health and Disease
Description
The tmem95 gene, also known as transmembrane protein 95, encodes a protein that plays a crucial role in maintaining cellular homeostasis. It is located on chromosome 21q22.2 and consists of 12 exons. The tmem95 protein is primarily found in the endoplasmic reticulum (ER), where it functions as a scaffold protein for various cellular processes.
Associated Diseases
Mutations in the tmem95 gene have been linked to several diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disorder that affects the motor neurons in the brain and spinal cord. Mutations in tmem95 have been associated with familial ALS, particularly in individuals with juvenile-onset (<40 years of age) ALS.
- Frontotemporal dementia (FTD): FTD is a group of disorders that affect the frontal and temporal lobes of the brain, leading to progressive cognitive and behavioral changes. Mutations in tmem95 have been identified as a rare cause of familial FTD.
- Parkinson's disease: Studies suggest that alterations in tmem95 expression may contribute to the pathogenesis of Parkinson's disease, a neurodegenerative disorder characterized by tremors, rigidity, and difficulty moving.
Did you Know ?
According to a study published in the journal "Neurology," mutations in the tmem95 gene account for approximately 2-3% of familial ALS cases and 1% of sporadic ALS cases.
