C4orf47
C4orf47: An Intriguing Gene Linked to Neurological Disorders and Obesity
Description
C4orf47 is a gene located on chromosome 4 in humans. It encodes a protein of unknown function, although it has been linked to several neurological disorders and metabolic dysfunctions. The C4orf47 gene has two main isoforms, C4orf47-201 and C4orf47-210, which differ in their structure and expression patterns.
Associated Diseases
C4orf47 has been implicated in the development of several neurological disorders, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects motor neurons, causing progressive muscle weakness and eventually paralysis. Studies have shown that mutations in the C4orf47 gene are associated with an increased risk of developing ALS.
- Frontotemporal Dementia (FTD): FTD is a group of degenerative disorders that affect the frontal and temporal lobes of the brain, leading to changes in behavior, personality, and language. C4orf47 has been identified as a potential genetic risk factor for FTD.
- Obesity and Metabolic Disorders: Recent research suggests that C4orf47 may also play a role in obesity and metabolic disorders. Studies have found that individuals with certain variants of the C4orf47 gene have an increased risk of developing obesity, insulin resistance, and type 2 diabetes.
Did you Know ?
- Approximately 2-5% of ALS cases are caused by mutations in the C4orf47 gene, making it one of the most common genetic risk factors for this devastating disease.
