C19orf66
C19orf66: A Multifaceted Gene with Intriguing Implications
Description
C19orf66, also known as chromosome 19 open reading frame 66, is a gene that encodes a protein of the same name. This protein is located in the cytoplasm of cells and is involved in a variety of cellular processes, including RNA metabolism, cell cycle regulation, and apoptosis.
Associated Diseases
Mutations in the C19orf66 gene have been linked to several diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects motor neurons. Mutations in C19orf66 are the most common genetic cause of familial ALS, accounting for approximately 5% of cases.
- Frontotemporal dementia: Frontotemporal dementia is a type of dementia that affects behavior and language. Mutations in C19orf66 are found in a small subset of cases.
- Other neurodegenerative diseases: Mutations in C19orf66 have also been associated with other neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease, but these associations are less well established.
Did you Know ?
Over 30 different mutations in the C19orf66 gene have been identified in people with ALS. These mutations are inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is needed to cause the disease.
