C17orf59
C17orf59: An Intriguing Gene with Implications for Neurodevelopmental Disorders
Description
C17orf59 is a gene located on chromosome 17, named after its position on the chromosome and open reading frame. It encodes a protein with a structure containing two putative transmembrane domains. The exact function of C17orf59 is still under investigation, but studies suggest it plays a role in neuronal development and synaptic function.
Associated Diseases
Mutations in the C17orf59 gene have been linked to several neurodevelopmental disorders, including:
- Autism Spectrum Disorder (ASD): C17orf59 mutations are found in a small percentage of individuals with ASD.
- Intellectual Disability (ID): Mutations in C17orf59 are associated with varying degrees of intellectual disability.
- Schizophrenia: Recent research indicates a possible link between C17orf59 mutations and schizophrenia.
Did you Know ?
A study published in the journal "Nature Genetics" revealed that approximately 0.5% of individuals with ASD have mutations in the C17orf59 gene. This suggests that C17orf59 may play a significant role in the development of ASD.
