NPBWR1
Headline: NPBR1: A Gene Linked to Neurological Disorders
Description
NPBR1 is a gene that encodes a protein called NPBWR1. This protein is involved in regulating the passage of ions, particularly sodium and potassium, across cell membranes. It is found in high concentrations in the nervous system, particularly in the brain and spinal cord.
Associated Diseases
Mutations in the NPBR1 gene have been linked to several neurological disorders, including:
- Intellectual disability: Characterized by significant impairments in intellectual functioning, difficulty with daily living skills, and problems with communication and social interaction.
- Epilepsy: A seizure disorder characterized by recurrent, involuntary electrical discharges in the brain.
- Autistic spectrum disorder (ASD): A complex developmental disorder characterized by difficulties with social interaction, communication, and repetitive behaviors.
- Schizophrenia: A chronic mental disorder characterized by delusions, hallucinations, disorganized speech, and impaired social functioning.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide is estimated to have a mutation in the NPBR1 gene.
