ACER1
Acer1: An Overview
Description:
Acer1, also known as acetylcholine receptor 1, is a protein that forms part of the nicotinic acetylcholine receptor (nAChR) family. nAChRs are ion channels that are responsible for transmitting signals across nerve synapses. Acer1 is specifically expressed in skeletal muscle and plays a crucial role in neuromuscular transmission.
Associated Diseases:
Mutations in the CHRNA1 gene, which encodes Acer1, have been linked to several neuromuscular disorders, including:
- Myasthenia gravis: An autoimmune disorder characterized by muscle weakness and fatigue.
- Congenital myasthenic syndrome: A group of genetic disorders that cause muscle weakness from birth.
- Lambert-Eaton myasthenic syndrome: An autoimmune disorder that affects the neuromuscular junction.
Did you Know ?
Approximately 1 in 20,000 people worldwide are affected by myasthenia gravis, with the CHRNA1 gene mutation being the most common cause.
