CHRNG
Protein-coding gene in humans
Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene.
It is one of the subunits that compose the nicotinic acetylcholine receptor (nAChR). The nAChR is a pentameric ionotropic receptor composed of five of four different subunits : two alpha (α), one beta (β), one delta (δ) and either one gamma (γ) or one epsilon (ε).
Two forms of AChR are found in mammalian skeletal muscle cells. The mature form, containing the epsilon subunit, which is specific to this mature AChR subtype, is predominant in innervated adult muscle and the embryonic form, containing gamma is present in fetal and denervated muscle.
This switch is mediated by Neuregulin 1 (acetylcholine receptor-inducing activity).
01Clinical significance
Mutations in CHRNG are known to cause the following conditions:
- Multiple pterygium syndrome, lethal type (LMPS);
- Multiple pterygium syndrome, Escobar variant (EVMPS).
Sources and credits
This article is adapted from the Wikipedia article “CHRNG”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Images, from Wikimedia Commons:
- Ideogram human chromosome 2.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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