AGRN


AGRN: A Vital Gene in the Nervous System

Description

AGRIN (agrin) is a gene that encodes a protein essential for the development and function of the nervous system. It plays a crucial role in the formation of neuromuscular junctions, where nerve cells communicate with muscle cells.

The AGRN protein is a large, multi-domain molecule that interacts with various components of the extracellular matrix and cell surface receptors. It acts as a bridge between nerve cells and muscle cells, facilitating the transmission of electrical signals.

Associated Diseases

Mutations in the AGRN gene can lead to several neuromuscular disorders, including:

  • Congenital Myasthenic Syndrome (CMS): A rare disorder that causes muscle weakness and fatigue from birth.
  • Distal Myopathy with Respiratory Failure (DMRF): A progressive muscle disorder characterized by weakness in the arms and legs, eventually leading to respiratory failure.
  • Lambert-Eaton Myasthenic Syndrome (LEMS): An autoimmune disorder that affects the communication between nerve cells and muscle cells, leading to muscle weakness and fatigue.

Did you Know ?

AGRIN mutations are estimated to occur in approximately 1 in 100,000 individuals.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.