LOC101926966
Loc101926966: A Novel Gene Linked to Neurodevelopmental Disorders
Description
Loc101926966 is a gene located on chromosome 10 that encodes a protein known as C10orf12. This protein is involved in the formation and function of neuronal synapses, the connections between neurons that allow them to communicate with each other. Mutations in the loc101926966 gene have been linked to a range of neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability.
Associated Diseases
Mutations in loc101926966 have been associated with the following neurodevelopmental disorders:
- Autism spectrum disorder (ASD)
- Intellectual disability
- Speech and language disorders
- Social communication difficulties
- Developmental delay
In some individuals, mutations in loc101926966 may also lead to physical anomalies, such as microcephaly (small head size), facial dysmorphism, and seizures.
Did you Know ?
Approximately 1% of individuals with ASD are estimated to have a mutation in the loc101926966 gene.
