CXorf30
Cxorf30: An Enigmatic Gene with Links to Disease and Development
Description
Cxorf30, also known as chromosome X open reading frame 30, is a protein-coding gene located on the X chromosome. It encodes a protein of unknown function that is mainly expressed in the brain and the testes.
Associated Diseases
While the exact function of Cxorf30 remains elusive, mutations in this gene have been linked to several rare genetic conditions:
- Syndromic intellectual disability: Mutations in Cxorf30 can cause a type of intellectual disability characterized by developmental delays, impaired language skills, and distinctive facial features.
- Autism spectrum disorder: Studies have suggested a potential association between Cxorf30 mutations and autism spectrum disorder, but further research is needed to establish a definitive link.
- Microcephalic primordial dwarfism: Mutations in Cxorf30 have also been implicated in a rare form of dwarfism characterized by a small head size and developmental abnormalities.
Did you Know ?
Research has found that Cxorf30 mutations are present in approximately 1 in every 50,000 individuals worldwide. This indicates that Cxorf30-related conditions are relatively rare but can have significant impact on affected individuals and their families.
