C8orf86
c8orf86: Unraveling the Enigma
Description
C8orf86, also known as chromosome 8 open reading frame 86, is a gene located on chromosome 8p23.1. It encodes a protein with an unknown function, although some studies suggest it may play a role in cellular growth and development. C8orf86 is highly conserved across species, indicating its potential importance.
Associated Diseases
Mutations in c8orf86 have been linked to several rare genetic disorders, including:
- Congenital Heart Defects: Studies have found that mutations in c8orf86 can increase the risk of congenital heart defects, such as atrial septal defects and ventricular septal defects.
- Intellectual Disability: Some individuals with mutations in c8orf86 have also been diagnosed with intellectual disability, although the exact mechanism behind this association is not yet fully understood.
- Microcephaly: Microcephaly, a condition characterized by an abnormally small head size, has also been associated with mutations in c8orf86.
Did you Know ?
- Mutations in c8orf86 are estimated to affect approximately 1 in 20,000 individuals worldwide.
