RAPSN : receptor associated protein of the synapse
Description
The RAPSN gene (Receptor-associated protein with tyrosine kinase activity) plays a vital role in muscle development and function. It encodes a protein that acts as a molecular bridge, connecting the acetylcholine receptor (AChR) at the neuromuscular junction to the cytoskeleton. This connection is crucial for signal transduction, allowing nerve impulses to trigger muscle contraction. Mutations in RAPSN can disrupt this process, leading to various neuromuscular disorders.
Associated Diseases
Did you know?
RAPSN mutations are often associated with unique phenotypes, including the ‘floppy baby‘ syndrome, characterized by generalized weakness and hypotonia.
