Anti-Nicotinic Acetylcholine Receptor epsilon/CHRNE antibody [4E10F6]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The Nicotinic Acetylcholine Receptor epsilon also known as CHRNE is a subunit of the nicotinic acetylcholine receptor found in the neuromuscular junction. This receptor plays a critical role in signal transduction across synaptic clefts by mediating the effect of the neurotransmitter acetylcholine. In molecular terms CHRNE functions as part of the pentameric ligand-gated ion channel. It exhibits involvement in the conversion of chemical signals into electrical ones by facilitating the flow of cations like sodium and calcium. The estimated mass of this target is approximately 57 kDa and it is expressed primarily in skeletal muscle tissue.

Biological function summary

The CHRNE subunit fits into the nicotinic acetylcholine receptor complex which involves other subunits like alpha beta delta and gamma. This receptor complex agonistically responds to the binding of acetylcholine released from motor neurons which ultimately leads to muscle contraction. The epsilon subunit replaces the gamma subunit during the development from fetal to adult muscle. This adjustment increases the affinity of the receptor to acetylcholine ensuring an enhanced efficiency in synaptic transmission.

Pathways

The CHRNE subunit plays a part in significant biological pathways including the neuromuscular synaptic transmission and the downstream process of muscle contraction. It associates with the agrin-LRP4-MuSK pathway which is essential for the formation and maintenance of the neuromuscular junction. Additionally it interacts with rapsyn a protein important for clustering and anchoring these receptors at the neuromuscular junction. Through these important pathways CHRNE ensures effective neuromuscular communication.

Associated diseases and disorders

CHRNE relates to congenital myasthenic syndromes which feature muscle weakness due to impaired neuromuscular transmission. Mutations in the CHRNE gene can disrupt receptor assembly or function leading to these syndromes. It also associates with myasthenia gravis an autoimmune disorder where the immune system attacks components of the neuromuscular junction often targeting proteins like acetylcholine receptors. Understanding the role of CHRNE and its interactions with these proteins provides insight into therapeutic approaches for these neuromuscular diseases.