RNF165
The rnf165 Gene: A Guardian of Cellular Health
Introduction:
The rnf165 gene, short for ring finger protein 165, plays a crucial role in maintaining cellular well-being and preventing disease. This complex gene encodes a protein that regulates a wide range of cellular processes, from DNA repair to inflammation.
Description:
The rnf165 gene is located on chromosome 17p13.1. It spans over 100,000 base pairs and contains 15 exons. The encoded protein, RNF165, is a ubiquitin ligase, an enzyme that attaches ubiquitin molecules to other proteins. This process, known as ubiquitination, marks proteins for degradation or other cellular events.
Associated Diseases:
Mutations in the rnf165 gene have been linked to several diseases, including:
- Malignancies: RNF165 mutations are commonly found in various cancers, including colon, breast, and lung cancers. Dysregulation of RNF165 can lead to uncontrolled cell growth and tumor formation.
- Neurodegenerative disorders: Mutations in rnf165 have been implicated in neurodegenerative diseases such as Alzheimer's disease and frontotemporal dementia. RNF165 dysfunction disrupts protein degradation pathways, leading to the accumulation of toxic proteins in the brain.
- Autoimmune diseases: RNF165 plays a role in regulating the immune system. Mutations in the gene can disrupt immune tolerance, leading to autoimmune diseases such as type 1 diabetes and lupus.
Did you Know ?
Studies have shown that approximately 1 in 1,000 people carry a mutation in the rnf165 gene, highlighting its significant role in human health.
