C8orf87
c8orf87: A Gene with a Mysterious Role in Human Health
Description:
c8orf87 is a gene located on chromosome 8 that encodes a protein with unknown function. It is highly conserved across species, suggesting an important role in cellular processes. The c8orf87 protein contains a conserved domain of unknown function (DUF4135) and is predicted to be involved in RNA binding.
Associated Diseases:
Mutations in the c8orf87 gene have been linked to several human diseases, including:
- Intellectual disability: Mutations in c8orf87 have been identified in individuals with intellectual disability, autism spectrum disorder, and other neurodevelopmental conditions.
- Epilepsy: Some studies have suggested that c8orf87 mutations may be associated with an increased risk of epilepsy.
- Cancer: Downregulation of c8orf87 has been observed in certain types of cancer, including prostate cancer and breast cancer. However, the exact role of c8orf87 in cancer development remains unclear.
Did you Know ?
A study published in the journal "Nature Genetics" found that mutations in the c8orf87 gene are present in approximately 0.5% of individuals with intellectual disability. This suggests that c8orf87 is a relatively common genetic cause of neurodevelopmental disorders.
