C15orf53
c15orf53: An Enigmatic Gene with Diverse Roles
Description
c15orf53, also known as chromosome 15 open reading frame 53, is a gene located on the long arm of chromosome 15. It encodes a protein of unknown function that is predominantly expressed in the brain and heart.
Associated Diseases
While the exact function of c15orf53 remains elusive, it has been implicated in several diseases, including:
- Amyotrophic lateral sclerosis (ALS): Studies have identified variations in the c15orf53 gene in individuals with ALS, suggesting a possible role in disease development.
- Alzheimer's disease: Certain genetic variants of c15orf53 have been associated with an increased risk of developing Alzheimer's disease.
- Neurodevelopmental disorders: Mutations in c15orf53 have been linked to neurodevelopmental disorders such as intellectual disability and autism spectrum disorder.
Did you Know ?
A large-scale genomic study involving over 100,000 individuals revealed that variations in the c15orf53 gene are present in approximately 1 in 200 people. This suggests that the gene plays a significant role in human health and disease.
