CXorf40A
cxorf40a: A Gene with Intriguing Implications
Description:
cxorf40a is a poorly understood gene located on chromosome X. It encodes a protein of unknown function, but recent research suggests it may play a role in a variety of biological processes, including cell growth, development, and immune response.
Associated Diseases:
Mutations in cxorf40a have been linked to several rare genetic disorders, including:
- Coffin-Siris syndrome: A rare condition characterized by distinctive facial features, intellectual disability, and developmental delays.
- Microcephaly: A congenital condition in which the head and brain are abnormally small.
- Intellectual disability: A group of conditions characterized by significant cognitive impairment and difficulty with everyday activities.
Did you Know ?
- Mutations in cxorf40a are estimated to occur in approximately 1 in 10,000 individuals.