C1orf112
c1orf112: An Enigmatic Gene with Intriguing Implications
Description
c1orf112, also known as chromosome 1 open reading frame 112, is a relatively new and poorly understood gene located on chromosome 1p31.1. Consisting of 12 exons and 11 introns, it spans approximately 35,000 base pairs. The gene encodes a protein of 425 amino acids, but its precise function and molecular mechanisms remain largely uncharted.
Associated Diseases
Although the role of c1orf112 in disease is still being investigated, several studies have linked variations or mutations in this gene to various medical conditions, including:
- Intellectual disability: Mutations in c1orf112 have been identified in individuals with cognitive impairment, developmental delays, and autism spectrum disorder.
- Epilepsy: Certain polymorphisms in c1orf112 have been associated with an increased risk of epilepsy, particularly juvenile myoclonic epilepsy.
- Schizophrenia: Some research suggests that alterations in the c1orf112 gene may contribute to the development of schizophrenia, a severe mental disorder.
- Cancer: Preliminary findings indicate that c1orf112 may play a role in the progression of certain types of cancer, such as leukemia and lung cancer.
Did you Know ?
A recent study published in the journal "Molecular Medicine" revealed that approximately 1 in 500 individuals carry a rare mutation in the c1orf112 gene. This intriguing finding highlights the potential impact of this gene on human health and the need for further research to unravel its mysteries.
