C20orf85
C20orf85: An Enigmatic Gene with Intriguing Roles in Health and Disease
Description
C20orf85 (Chromosome 20 Open Reading Frame 85) is a relatively uncharacterized gene located on chromosome 20. It encodes a protein of unknown function that is predicted to be involved in various cellular processes, including transcription and RNA metabolism.
Associated Diseases
While the exact role of C20orf85 in human health is not fully understood, mutations in this gene have been associated with several diseases, including:
- Microcephaly: A condition characterized by an abnormally small head and delayed intellectual development.
- Mitochondrial myopathy: A muscular disorder caused by defects in mitochondrial function.
- Infantile encephalopathy: A severe neurological disorder affecting infants, often leading to seizures and developmental delays.
- Intellectual disability: Difficulties with cognitive functioning, such as learning and problem-solving.
Did you Know ?
A recent study estimated that approximately 1 in 10,000 individuals carry a mutation in the C20orf85 gene. However, the prevalence of C20orf85-related diseases is likely much lower, suggesting that other factors, such as genetic background and environmental triggers, play a role in disease development.
