C6orf201
Title: C6orf201: A Gene Linked to Neurodevelopmental Disorders
Description:
C6orf201 (chromosome 6 open reading frame 201) is a gene located on chromosome 6 in humans. It encodes a protein of unknown function that is highly expressed in the brain, particularly during early development. Mutations in the C6orf201 gene have been linked to a number of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and epilepsy.
Associated Diseases:
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Intellectual Disability: Mutations in C6orf201 have been identified in individuals with intellectual disability, characterized by significant impairments in cognitive abilities such as problem-solving, language, and social skills.
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Autism Spectrum Disorder: Studies have shown an association between mutations in C6orf201 and autism spectrum disorder, a neurodevelopmental condition characterized by difficulties with social interaction, communication, and repetitive behaviors.
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Epilepsy: C6orf201 mutations have also been linked to epilepsy, a neurological disorder characterized by recurrent seizures.
Did you Know ?
- Approximately 1 in every 1,500 individuals with intellectual disability have a mutation in the C6orf201 gene.
