BPNT2
Description
The BPNT2 gene, located on chromosome 17, encodes for a protein known as BPNT2. This protein is crucial for the proper development and function of neurons. It acts as a chaperone, helping other proteins fold correctly and preventing their misfolding, which can be detrimental to the cell. BPNT2 plays a vital role in regulating calcium signaling, a process essential for neuronal communication and plasticity. Dysfunction of BPNT2 can disrupt these vital cellular processes, leading to various neurological disorders.
Associated Diseases
- Neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability)
- Neurodegenerative diseases (e.g., Alzheimer‘s disease, Parkinson‘s disease)
- Epilepsy
- Schizophrenia
Did you know?
Mutations in BPNT2 have been linked to a rare genetic disorder called ‘BPNT2-related neurodevelopmental disorder,‘ characterized by intellectual disability, seizures, and motor delays.
