C2orf27B
c2orf27b: An Emerging Enigma in Cellular Function and Disease
Description
c2orf27b, located on chromosome 2, is a relatively unstudied gene that encodes a protein of unknown function. However, recent research has begun to unravel its potential role in a myriad of cellular processes and disease conditions.
Associated Diseases
c2orf27b has been implicated in several human diseases, including:
- Type 1 diabetes: Genetic variations in c2orf27b have been associated with an increased risk of developing type 1 diabetes.
- Schizophrenia: Studies have identified c2orf27b as a potential susceptibility gene for schizophrenia.
- Autism spectrum disorder: Researchers have found that individuals with autism spectrum disorder have alterations in the expression of c2orf27b.
- Mitochondrial disorders: c2orf27b has been linked to mitochondrial dysfunction, contributing to disorders such as Leigh syndrome and fatty acid oxidation defects.
Did you Know ?
According to a recent study, individuals with the rs11738928 variant in c2orf27b have a 1.5-fold increased risk of developing type 1 diabetes.
