TMEM35
The TMEM35 Gene: An Enigma in Neurodegenerative Diseases
Description
The TMEM35 gene encodes a protein known as transmembrane protein 35. It is located on chromosome 19 and consists of 11 exons. TMEM35 is a type II transmembrane protein with a short N-terminal cytoplasmic domain and a large extracellular C-terminal domain. It is expressed in various tissues, including the brain, heart, and skeletal muscle.
Associated Diseases
Mutations in the TMEM35 gene have been linked to several neurodegenerative diseases, including:
- Frontotemporal dementia (FTD): FTD is characterized by progressive degeneration of the frontal and temporal lobes of the brain, leading to changes in personality, behavior, and language. TMEM35 mutations account for approximately 3-5% of FTD cases.
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal neurodegenerative disorder that affects motor neurons in the spinal cord and brain. TMEM35 mutations have been associated with familial ALS, accounting for about 1% of cases.
- Charcot-Marie-Tooth disease type 4C (CMT4C): CMT4C is an inherited peripheral neuropathy characterized by progressive muscle weakness and wasting. TMEM35 mutations are responsible for a small proportion of CMT4C cases.
Did you Know ?
Research has shown that approximately 1 in 100 people with FTD carry a mutation in the TMEM35 gene. This highlights the significant role of TMEM35 in the development of this neurodegenerative disease.
