C17orf96
c17orf96: An Enigmatic Gene Linked to Autism Spectrum Disorder
Description
c17orf96, also known as chromosome 17 open reading frame 96, is a gene located on chromosome 17 in humans. It encodes a protein of unknown function that is highly conserved across species. c17orf96 is primarily expressed in the brain, with lower levels found in other tissues such as the heart, liver, and skeletal muscle.
Associated Diseases
c17orf96 has been implicated in several neurodevelopmental disorders, including:
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Autism Spectrum Disorder (ASD): Mutations in c17orf96 have been associated with an increased risk of ASD. Studies have shown that individuals with ASD are more likely to carry rare variants or deletions in the c17orf96 gene.
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Intellectual Disability (ID): c17orf96 mutations have also been linked to intellectual disability, a condition characterized by significant limitations in cognitive abilities.
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Schizophrenia: Some research suggests an association between c17orf96 mutations and schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
According to a study published in the journal Nature Genetics, approximately 1 in 100 individuals with ASD have a mutation in the c17orf96 gene. This makes c17orf96 one of the most common genetic risk factors for ASD.
