C17orf104
Understanding c17orf104: A Novel Gene Linked to Neurological Disorders
Description
c17orf104, also known as chromosome 17 open reading frame 104, is a gene located on the short arm of human chromosome 17. It encodes a protein called C17orf104, which plays a crucial role in maintaining neuronal health and function.
C17orf104 protein is primarily expressed in the brain, particularly in the cerebellum and hippocampus, regions involved in movement coordination and memory formation. It is believed to regulate neuronal excitability by modulating the activity of ion channels, such as potassium and sodium channels.
Associated Diseases
Mutations in the c17orf104 gene have been linked to several neurological conditions, including:
- Epilepsy: Certain mutations in c17orf104 have been associated with an increased risk of developing epilepsy, particularly a type known as focal epilepsy.
- Autism Spectrum Disorder (ASD): Studies have found that individuals with ASD have a higher prevalence of mutations in the c17orf104 gene compared to the general population.
- Schizophrenia: Some research suggests that alterations in c17orf104 expression may contribute to the development of schizophrenia.
- Intellectual Disability: Mutations in c17orf104 have been linked to intellectual disability in some cases.
Did you Know ?
A large-scale study conducted by the Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium revealed that mutations in c17orf104 are present in approximately 0.5% of individuals with autism spectrum disorder.
