C5orf64
c5orf64: A Gene Linked to Neurological Development and Disease
Description
c5orf64 is a gene located on chromosome 5q15. It encodes a protein known as chromosome 5 open reading frame 64 (C5orf64). This protein is highly conserved across species, suggesting its essential role in biological processes.
Associated Diseases
Mutations in c5orf64 have been linked to several neurological disorders, including:
- Microcephaly: A condition characterized by an abnormally small head size and impaired brain development.
- Intellectual disability: Difficulty with cognitive functions such as learning, problem-solving, and reasoning.
- Autism spectrum disorder (ASD): A complex neurodevelopmental disorder characterized by deficits in social interaction and communication, as well as repetitive behaviors.
- Epilepsy: A neurological condition characterized by recurrent seizures.
Did you Know ?
Approximately 1 in 15,000 individuals worldwide are affected by microcephaly caused by mutations in c5orf64. This makes it one of the most common genetic causes of microcephaly.
