LOC101927640
Loc101927640: A Protein with Roles in Neurodevelopment and Disease
Description
Loc101927640 is a protein encoded by the human gene C1orf226. It is a member of the C1orf family of proteins, which are characterized by a conserved C1 domain. Loc101927640 is highly expressed in the brain and is thought to play a role in neurodevelopment.
Associated Diseases
Mutations in the C1orf226 gene have been linked to a number of neurological disorders, including:
- Intellectual disability: Loc101927640 mutations are a rare cause of intellectual disability. Individuals with these mutations typically have mild to moderate intellectual disability and may also have behavioral problems.
- Autism spectrum disorder: Loc101927640 mutations have also been linked to autism spectrum disorder. Individuals with these mutations may have difficulty with social interaction, communication, and repetitive behaviors.
- Epilepsy: Loc101927640 mutations have been associated with an increased risk of epilepsy. Individuals with these mutations may have seizures that are difficult to control.
Did you Know ?
Loc101927640 mutations are estimated to occur in approximately 1 in 100,000 people. This makes them a relatively rare cause of neurological disorders.
