C21orf62
c21orf62: A Gene Linked to Autism and Intellectual Disability
Description:
c21orf62 is a gene located on chromosome 21. It encodes a protein that is involved in various cellular processes, including cell division, cell signaling, and DNA repair. Mutations in the c21orf62 gene have been linked to several developmental disorders, most notably autism spectrum disorder (ASD) and intellectual disability.
Associated Diseases:
- Autism Spectrum Disorder (ASD): ASD is a neurodevelopmental condition that affects social communication and interaction. Mutations in c21orf62 have been identified in approximately 1-2% of individuals with ASD.
- Intellectual Disability: Individuals with intellectual disability have cognitive and intellectual abilities that fall below the average range. Mutations in c21orf62 can contribute to intellectual disability, particularly in cases of moderate to severe disability.
- Down Syndrome: Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. The c21orf62 gene is located on chromosome 21, so individuals with Down syndrome have three copies of this gene. This increased gene dosage has been linked to some of the developmental and cognitive difficulties seen in Down syndrome.
Did you Know ?
According to a study published in the journal "Molecular Autism," mutations in c21orf62 are present in approximately 1.2% of individuals with ASD. This makes it one of the most common genetic risk factors for ASD.
