LOC100128573
Loc100128573: An Emerging Genetic Locus for Autism Spectrum Disorder
Description
Loc100128573 is a genetic locus associated with autism spectrum disorder (ASD). It is located on chromosome 10q24.31 and contains several genes that have been implicated in the development of ASD. These genes include:
- C10orf67: This gene encodes a protein that is involved in the regulation of gene expression. Mutations in this gene have been linked to ASD and other neurodevelopmental disorders.
- OTOGL: This gene encodes a protein that is involved in the formation of the inner ear. Mutations in this gene have been linked to ASD and deafness.
- RNF185: This gene encodes a protein that is involved in the ubiquitination of proteins. Mutations in this gene have been linked to ASD and intellectual disability.
Associated Diseases
In addition to ASD, loc100128573 has also been associated with the following diseases:
- Deafness: Mutations in the OTOGL gene can cause deafness.
- Intellectual disability: Mutations in the RNF185 gene can cause intellectual disability.
- Schizophrenia: Some studies have found that mutations in the C10orf67 gene may be associated with schizophrenia.
Did you Know ?
Approximately 1% of individuals with ASD have mutations in loc100128573. This makes it one of the most common genetic risk factors for ASD.
