C18orf42
C18orf42: An Intriguing Gene with Multifaceted Roles
Description
C18orf42, also known as chromosome 18 open reading frame 42, is a human gene located on chromosome 18. This gene encodes a protein that is thought to play a crucial role in various cellular processes, including immune regulation, cell growth, and neurodevelopment. The C18orf42 protein is highly conserved across different species, indicating its functional importance.
Associated Diseases
Mutations or alterations in the C18orf42 gene have been linked to several diseases, including:
- Neurodevelopmental disorders: C18orf42 mutations have been identified in individuals with autism spectrum disorder (ASD) and intellectual disability.
- Immune disorders: The C18orf42 protein is involved in immune regulation, and mutations in this gene have been associated with immune deficiencies and autoimmune diseases.
- Cancer: C18orf42 has been implicated in the development of certain types of cancer, including leukemia and lung cancer.
Did you Know ?
Studies have shown that approximately 1 in 100 individuals carry a mutation in the C18orf42 gene. These mutations can range from rare single nucleotide polymorphisms (SNPs) to more severe deletions or duplications of the gene.
