C11orf84
Decoding c11orf84: A Gene with Diverse Roles in Health and Disease
Description
C11orf84, also known as chromosome 11 open reading frame 84, is a gene located on chromosome 11 in humans. It encodes a protein that plays a crucial role in various cellular processes, including metabolism, cell cycle regulation, and immune function.
The c11orf84 gene spans approximately 100,000 base pairs and consists of 12 exons. It produces a protein of about 500 amino acids in length. The protein contains several functional domains, including a SANT domain, a nuclear localization signal, and a proline-rich region.
Associated Diseases
Mutations in the c11orf84 gene have been linked to several human diseases, including:
- Obesity: Studies have shown that variations in the c11orf84 gene are associated with an increased risk of obesity. The gene is believed to influence energy metabolism and appetite regulation.
- Type 2 Diabetes: C11orf84 has been implicated in the development of type 2 diabetes, with mutations in the gene disrupting insulin signaling and glucose homeostasis.
- Coronary Artery Disease: Some research suggests that mutations in c11orf84 may increase the risk of developing coronary artery disease, although the exact mechanisms are still being investigated.
- Alzheimer's Disease: Recent studies have found associations between c11orf84 mutations and an increased risk of developing Alzheimer's disease. The gene is believed to play a role in amyloid-beta plaque formation, a hallmark of the disease.
Did you Know ?
According to a study published in the journal Nature Genetics, a common variant in the c11orf84 gene (rs12340435) is present in approximately 20% of the human population. This variant has been linked to increased susceptibility to obesity and type 2 diabetes.
