C19orf48
C19orf48: An Emerging Gene with Potential Implications for Neurodegenerative Diseases
Description
C19orf48 (chromosome 19 open reading frame 48) is a gene that encodes a protein of unknown function. It is located on chromosome 19q13.11 and is highly conserved across species. The C19orf48 protein contains a conserved domain called the C19orf48_DOM, which is unique to this protein and has not been found in any other known proteins.
Associated Diseases
Mutations in the C19orf48 gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects the motor neurons in the brain and spinal cord. Mutations in C19orf48 have been found in approximately 5% of ALS cases.
- Frontotemporal dementia (FTD): FTD is a neurodegenerative disease that affects the frontal and temporal lobes of the brain, leading to changes in personality, behavior, and language. Mutations in C19orf48 have been found in approximately 20% of FTD cases.
- Parkinson's disease (PD): PD is a neurodegenerative disease that affects the movement centers of the brain. Mutations in C19orf48 have been found in a small percentage of PD cases.
Did you Know ?
The C19orf48 gene is one of the most commonly mutated genes in ALS, accounting for approximately 5% of cases. This makes it the second most common genetic cause of ALS, after the C9orf72 gene.
