C2orf48
C2orf48: A Mysterious Gene with Intriguing Implications
Description
C2orf48, also known as Chromosome 2 Open Reading Frame 48, is a human gene located on the long arm of chromosome 2. It encodes a protein of unknown function, and its role in human health is largely unexplored. However, recent research has begun to shed light on its potential significance.
Associated Diseases
Mutations in C2orf48 have been linked to several diseases, including:
- Schizophrenia: A complex psychiatric disorder characterized by hallucinations, delusions, and impaired social functioning.
- Bipolar disorder: A mood disorder characterized by alternating episodes of mania and depression.
- Autism spectrum disorder: A neurodevelopmental disorder characterized by social difficulties, communication impairments, and repetitive behaviors.
Did you Know ?
According to a study published in the journal "Nature Genetics," a rare mutation in the C2orf48 gene has been found in approximately 1% of individuals with schizophrenia. This suggests that this mutation may play a significant role in the development of the disorder.
