C4orf29
C4orf29: An Intriguing Gene with a Role in Human Health
Introduction
C4orf29, also known as Chromosome 4 Open Reading Frame 29, is a gene located on chromosome 4 in humans. It has garnered attention in recent years due to its potential role in various human diseases and its intriguing functions in the body.
Description
C4orf29 encodes a protein of 907 amino acids that is predominantly expressed in the brain and testes. Studies suggest that it plays a role in regulating the assembly and stability of synapses, the junctions between neurons that enable communication. Additionally, C4orf29 is involved in the immune response and may contribute to inflammatory processes.
Associated Diseases
Mutations in C4orf29 have been linked to several neurodegenerative and immune-related diseases, including:
- Neurodevelopmental disorders: Intellectual disability, autism spectrum disorder, and epilepsy
- Neurodegenerative diseases: Alzheimer's disease and Parkinson's disease
- Immune disorders: Rheumatoid arthritis and multiple sclerosis
Did you Know ?
Research indicates that approximately 1 in 10,000 individuals has a mutation in the C4orf29 gene, highlighting its potential impact on human health.
