C7orf31
c7orf31: A Multifaceted Gene with Intriguing Roles in Health and Disease
Description
c7orf31 (chromosome 7 open reading frame 31) is a gene located on the long arm of chromosome 7 in humans. It spans approximately 120,000 base pairs and encodes a protein of 412 amino acids. The c7orf31 gene is highly conserved across different species, suggesting its importance in fundamental biological processes.
Associated Diseases
c7orf31 has been linked to several human diseases, including:
- Autoimmune disorders: Studies have shown that variants in c7orf31 are associated with an increased risk of developing autoimmune diseases such as multiple sclerosis, lupus, and rheumatoid arthritis.
- Neurological disorders: Mutations in c7orf31 have been identified in individuals with neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and epilepsy.
- Cancer: Alterations in c7orf31 expression have been linked to the development and progression of certain cancers, including breast, lung, and colon cancer.
Did you Know ?
A recent genome-wide association study involving over 100,000 individuals revealed that a specific variant in c7orf31 is strongly associated with a higher risk of developing multiple sclerosis. Carriers of this variant have an approximately 20% increased likelihood of developing the disease compared to those who do not possess the variant.
Latest Research
Ongoing research on c7orf31 is exploring its diverse roles in cellular processes and disease mechanisms. Here are some highlights of recent advancements:
- Immune regulation: Studies have demonstrated that c7orf31 plays a critical role in regulating the activity of immune cells, particularly T cells. Alterations in c7orf31 function can disrupt immune homeostasis and lead to the development of autoimmune disorders.
- Neurological development: Research has identified a link between c7orf31 and the development of synapses, the connections between neurons in the brain. Mutations in c7orf31 can impair synapse formation and function, contributing to neurodevelopmental disorders.
- Cancer progression: Scientists have discovered that c7orf31 is involved in controlling cell proliferation and apoptosis (programmed cell death). Dysregulation of c7orf31 activity can promote cancer cell growth and survival, contributing to tumorigenesis.
