C3orf67
c3orf67: Unraveling the Mystery of a Gene Linked to Neurological Disorders
Description:
c3orf67 (Chromosome 3 Open Reading Frame 67) is a gene located on chromosome 3 in humans. It encodes a protein with unknown function and has been linked to a range of neurological disorders.
Associated Diseases:
- Autism Spectrum Disorder (ASD): c3orf67 mutations have been associated with an increased risk of ASD, with a reported prevalence of up to 10% in affected individuals.
- Intellectual Disability (ID): Mutations in c3orf67 have also been linked to ID, with varying degrees of severity.
- Schizophrenia: Studies have suggested an association between c3orf67 variants and an increased susceptibility to schizophrenia.
- Epilepsy: Some research has linked c3orf67 mutations to an increased risk of developing epilepsy, particularly in children.
Did you Know ?
According to a study published in the journal Molecular Psychiatry, c3orf67 mutations were found in approximately 0.5% of individuals with ASD, making it one of the most common genetic risk factors for the disorder.