# CHRND

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Protein-coding gene in humans

CHRND Identifiers Aliases CHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit External IDs OMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.1 Start 232,525,993 bp[1] End 232,536,667 bp[1] Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C5|1 44.07 cM Start 87,118,329 bp[2] End 87,127,792 bp[2] RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh testicle glutes skeletal muscle tissue tibialis anterior muscle mucosa of nose granulocyte hypothalamus blood Top expressed in secondary oocyte tongue muscle zygote embryo primary oocyte muscle of thigh esophagus lip somite skeletal muscle tissue More reference expression data BioGPS More reference expression data Gene ontology Molecular function acetylcholine binding ion channel activity extracellular ligand-gated ion channel activity ligand-gated ion channel activity acetylcholine-gated cation-selective channel activity transmembrane signaling receptor activity acetylcholine receptor activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component integral component of membrane postsynaptic membrane membrane synapse cell junction acetylcholine-gated channel complex nucleoplasm cytosol plasma membrane neuromuscular junction integral component of postsynaptic specialization membrane integral component of plasma membrane neuron projection Biological process muscle contraction regulation of membrane potential skeletal muscle contraction response to nicotine cation transport synaptic transmission, cholinergic ion transport skeletal muscle tissue growth neuromuscular synaptic transmission neuromuscular process musculoskeletal movement signal transduction regulation of postsynaptic membrane potential excitatory postsynaptic potential cation transmembrane transport ion transmembrane transport chemical synaptic transmission nervous system process Sources:Amigo / QuickGO Orthologs Species Human Mouse Entrez 1144 11447 Ensembl ENSG00000135902 ENSMUSG00000026251 UniProt Q07001 P02716 RefSeq (mRNA) NM_000751 NM_001256657 NM_001311195 NM_001311196 NM_021600 RefSeq (protein) NP_000742 NP_001243586 NP_001298124 NP_001298125 NP_067611 Location (UCSC) Chr 2: 232.53 – 232.54 Mb Chr 1: 87.12 – 87.13 Mb PubMed search [3] [4] Wikidata View/Edit Human View/Edit Mouse

**Acetylcholine receptor subunit delta** is a [protein](/source/Protein) that in humans is encoded by the *CHRND* [gene](/source/Gene).[5]

## Function

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.[5]

## Interactions

CHRND has been shown to [interact](/source/Protein-protein_interaction) with [Cholinergic receptor, nicotinic, alpha 1](/source/Cholinergic_receptor%2C_nicotinic%2C_alpha_1).[6][7]

## Clinical significance

Mutations in CHRND are known to cause the following conditions:[8]

- Multiple pterygium syndrome, lethal type (LMPS);

- Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A);

- Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B);

- Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C).

## See also

- [Nicotinic acetylcholine receptor](/source/Nicotinic_acetylcholine_receptor)

## References

1. ^ [***a***](#cite_ref-refGRCh38Ensembl_1-0) [***b***](#cite_ref-refGRCh38Ensembl_1-1) [***c***](#cite_ref-refGRCh38Ensembl_1-2) [GRCh38: Ensembl release 89: ENSG00000135902](http://May2017.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000135902) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. ^ [***a***](#cite_ref-refGRCm38Ensembl_2-0) [***b***](#cite_ref-refGRCm38Ensembl_2-1) [***c***](#cite_ref-refGRCm38Ensembl_2-2) [GRCm38: Ensembl release 89: ENSMUSG00000026251](http://May2017.archive.ensembl.org/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000026251) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. **[^](#cite_ref-3)** ["Human PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=1144). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. **[^](#cite_ref-4)** ["Mouse PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=11447). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. ^ [***a***](#cite_ref-entrez_5-0) [***b***](#cite_ref-entrez_5-1) ["Entrez Gene: CHRND cholinergic receptor, nicotinic, delta"](https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1144).

1. **[^](#cite_ref-pmid7695910_6-0)** Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). ["Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor"](https://doi.org/10.1016%2F0896-6273%2895%2990320-8). *Neuron*. **14** (3): 635–44. [doi](/source/Doi_(identifier)):[10.1016/0896-6273(95)90320-8](https://doi.org/10.1016%2F0896-6273%2895%2990320-8). [PMID](/source/PMID_(identifier)) [7695910](https://pubmed.ncbi.nlm.nih.gov/7695910).

1. **[^](#cite_ref-pmid8910344_7-0)** Wang ZZ, Hardy SF, Hall ZW (November 1996). ["Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo"](https://doi.org/10.1074%2Fjbc.271.44.27575). *J. Biol. Chem*. **271** (44): 27575–84. [doi](/source/Doi_(identifier)):[10.1074/jbc.271.44.27575](https://doi.org/10.1074%2Fjbc.271.44.27575). [PMID](/source/PMID_(identifier)) [8910344](https://pubmed.ncbi.nlm.nih.gov/8910344).

1. **[^](#cite_ref-8)** ["UniProt"](https://www.uniprot.org/uniprotkb/Q07001/entry). *www.uniprot.org*. Retrieved 2023-07-08.

## Further reading

- Colledge M, Froehner SC (1998). "Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction". *Ann. N. Y. Acad. Sci*. **841** (1): 17–27. [Bibcode](/source/Bibcode_(identifier)):[1998NYASA.841...17C](https://ui.adsabs.harvard.edu/abs/1998NYASA.841...17C). [doi](/source/Doi_(identifier)):[10.1111/j.1749-6632.1998.tb10907.x](https://doi.org/10.1111%2Fj.1749-6632.1998.tb10907.x). [PMID](/source/PMID_(identifier)) [9668219](https://pubmed.ncbi.nlm.nih.gov/9668219). [S2CID](/source/S2CID_(identifier)) [41992031](https://api.semanticscholar.org/CorpusID:41992031).

- Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". *Ann. Hum. Genet*. **54** (Pt 3): 199–208. [doi](/source/Doi_(identifier)):[10.1111/j.1469-1809.1990.tb00378.x](https://doi.org/10.1111%2Fj.1469-1809.1990.tb00378.x). [PMID](/source/PMID_(identifier)) [2221824](https://pubmed.ncbi.nlm.nih.gov/2221824). [S2CID](/source/S2CID_(identifier)) [151624](https://api.semanticscholar.org/CorpusID:151624).

- Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J (1989). ["A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6569985). *J. Neurosci*. **9** (3): 1082–96. [doi](/source/Doi_(identifier)):[10.1523/JNEUROSCI.09-03-01082.1989](https://doi.org/10.1523%2FJNEUROSCI.09-03-01082.1989). [PMC](/source/PMC_(identifier)) [6569985](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6569985). [PMID](/source/PMID_(identifier)) [2564429](https://pubmed.ncbi.nlm.nih.gov/2564429).

- Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). ["Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor"](https://doi.org/10.1016%2F0896-6273%2895%2990320-8). *Neuron*. **14** (3): 635–44. [doi](/source/Doi_(identifier)):[10.1016/0896-6273(95)90320-8](https://doi.org/10.1016%2F0896-6273%2895%2990320-8). [PMID](/source/PMID_(identifier)) [7695910](https://pubmed.ncbi.nlm.nih.gov/7695910).

- Pasteris NG, Trask BJ, Sheldon S, Gorski JL (1993). "Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35". *Hum. Mol. Genet*. **2** (7): 953–9. [doi](/source/Doi_(identifier)):[10.1093/hmg/2.7.953](https://doi.org/10.1093%2Fhmg%2F2.7.953). [PMID](/source/PMID_(identifier)) [8103404](https://pubmed.ncbi.nlm.nih.gov/8103404).

- Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM (1996). ["New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome"](https://doi.org/10.1093%2Fhmg%2F5.9.1217). *Hum. Mol. Genet*. **5** (9): 1217–27. [doi](/source/Doi_(identifier)):[10.1093/hmg/5.9.1217](https://doi.org/10.1093%2Fhmg%2F5.9.1217). [PMID](/source/PMID_(identifier)) [8872460](https://pubmed.ncbi.nlm.nih.gov/8872460).

- Wang ZZ, Hardy SF, Hall ZW (1996). ["Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo"](https://doi.org/10.1074%2Fjbc.271.44.27575). *J. Biol. Chem*. **271** (44): 27575–84. [doi](/source/Doi_(identifier)):[10.1074/jbc.271.44.27575](https://doi.org/10.1074%2Fjbc.271.44.27575). [PMID](/source/PMID_(identifier)) [8910344](https://pubmed.ncbi.nlm.nih.gov/8910344).

- Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D (2001). ["Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC209343). *J. Clin. Invest*. **108** (1): 125–30. [doi](/source/Doi_(identifier)):[10.1172/JCI12935](https://doi.org/10.1172%2FJCI12935). [PMC](/source/PMC_(identifier)) [209343](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC209343). [PMID](/source/PMID_(identifier)) [11435464](https://pubmed.ncbi.nlm.nih.gov/11435464).

- Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J (2002). ["Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841278). *Ann. Neurol*. **51** (1): 102–12. [doi](/source/Doi_(identifier)):[10.1002/ana.10077](https://doi.org/10.1002%2Fana.10077). [PMC](/source/PMC_(identifier)) [4841278](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841278). [PMID](/source/PMID_(identifier)) [11782989](https://pubmed.ncbi.nlm.nih.gov/11782989).

- Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG (2002). "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation". *Neurology*. **59** (12): 1881–8. [doi](/source/Doi_(identifier)):[10.1212/01.wnl.0000042422.87384.2f](https://doi.org/10.1212%2F01.wnl.0000042422.87384.2f). [PMID](/source/PMID_(identifier)) [12499478](https://pubmed.ncbi.nlm.nih.gov/12499478). [S2CID](/source/S2CID_(identifier)) [35612575](https://api.semanticscholar.org/CorpusID:35612575).

## External links

- [CHRND+protein,+human](https://meshb.nlm.nih.gov/record/ui?name=CHRND+protein%2C+human) at the U.S. National Library of Medicine [Medical Subject Headings](/source/Medical_Subject_Headings) (MeSH)

- Human [*CHRND*](https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=CHRND) genome location and [*CHRND*](https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=CHRND) gene details page in the [UCSC Genome Browser](/source/UCSC_Genome_Browser).

*This article incorporates text from the [United States National Library of Medicine](/source/United_States_National_Library_of_Medicine), which is in the [public domain](/source/Public_domain).*

v t e Ion channel, cell surface receptor: ligand-gated ion channels Cys-loop receptors 5-HT/serotonin 5-HT3 A B C D E GABA GABAA α1 α2 α3 α4 α5 α6 β1 β2 β3 γ1 γ2 γ3 δ ε π θ GABAA-ρ ρ1 ρ2 ρ3 Glycine α1 α2 α3 α4 β Nicotinic acetylcholine monomers: α1 α2 α3 α4 α5 α6 α7 α9 α10 β1 β2 β3 β4 δ ε pentamers: (α3)2(β4)3 (α4)2(β2)3 (α7)5 (α1)2(β4)3 - Ganglion type (α1)2β1δε - Muscle type Zinc Zinc-activated Ionotropic glutamates Ligand-gated only AMPA (1 2 3 4) Kainate 1 2 3 4 5 Voltage- and ligand-gated NMDA 1 2A 2B 2C 2D 3A 3B L1A L1B ‘Orphan’ GluD δ1 δ2 ATP-gated channels Purinergic receptors P2X 1 2 3 4 5 6 7

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Adapted from the Wikipedia article [CHRND](https://en.wikipedia.org/wiki/CHRND) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/CHRND?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.