VCX
The vcx Gene: Unraveling Its Role in Human Health
Description
The vcx gene, located on chromosome 19, encodes a protein called Vaccinia virus complement control protein (VCP). VCP plays a crucial role in various cellular processes, including protein degradation, DNA repair, and cell division. It interacts with a wide range of proteins and is involved in multiple cellular pathways.
Associated Diseases
Mutations in the vcx gene have been linked to a number of inherited disorders, including:
- Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD): A rare disorder characterized by muscle weakness, bone deformities, and cognitive impairment.
- Alzheimer's disease: Studies suggest that VCP dysfunction may contribute to the development of Alzheimer's disease by impairing protein degradation and promoting the accumulation of amyloid beta plaques.
- Parkinson's disease: Similar to Alzheimer's disease, VCP dysfunction has also been implicated in the progression of Parkinson's disease.
- Amyotrophic lateral sclerosis (ALS): Mutations in the vcx gene have been identified in some cases of ALS, a fatal neurodegenerative disorder.
Did you Know ?
Approximately 1 in 1 million people worldwide is affected by IBMPFD, the most common disorder associated with vcx gene mutations.
