C12orf79
c12orf79: An Intriguing Gene with a Role in Disease
Description
c12orf79, also known as chromosome 12 open reading frame 79, is a gene located on the long arm of chromosome 12 in humans. It encodes a protein of unknown function that is highly conserved across vertebrate species, suggesting its importance in cellular processes.
Associated Diseases
Studies have implicated c12orf79 in various diseases, including:
1. Cancer: c12orf79 has been linked to several types of cancer, including lung adenocarcinoma, colorectal cancer, and breast cancer. Overexpression of c12orf79 is associated with increased cell proliferation, migration, and invasion, contributing to tumorigenesis.
2. Neurological Disorders: Mutations in c12orf79 have been identified in individuals with neurological disorders such as autism spectrum disorder (ASD) and schizophrenia. These mutations may disrupt the normal functioning of the c12orf79 protein, leading to impairments in cognitive and behavioral functions.
3. Autoimmune Diseases: Certain polymorphisms in the c12orf79 gene have been associated with an increased risk of autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus (SLE). These polymorphisms may alter the immune response, contributing to the development of autoimmune conditions.
Did you Know ?
Approximately 1 in 500 individuals worldwide carry a mutation in the c12orf79 gene. These mutations can vary in severity, with some leading to significant health problems while others may have no noticeable effects.
