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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{PBB|geneid=1144}}
{{Infobox_gene}}
'''Acetylcholine receptor subunit delta''' is a [[protein]] that in humans is encoded by the ''CHRND'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRND cholinergic receptor, nicotinic, delta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1144| accessdate = }}</ref>
'''Acetylcholine receptor subunit delta''' is a [[protein]] that in humans is encoded by the ''CHRND'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRND cholinergic receptor, nicotinic, delta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1144}}</ref>


== Function ==
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
⚫
| summary_text = 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.<ref name="entrez" />
}}


⚫
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.<ref name="entrez" />
==Interactions==
⚫
CHRND has been shown to [[Protein-protein interaction|interact]] with [[Cholinergic receptor, nicotinic, alpha 1]].<ref name=pmid7695910>{{cite journal |last=Kreienkamp |first=H J |authorlink= |author2=Maeda R K|author3=Sine S M|author4=Taylor P |date=March 1995 |title=Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor |journal=Neuron |volume=14 |issue=3 |pages=635–44 |publisher= |location = UNITED STATES| issn = 0896-6273| pmid = 7695910 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1016/0896-6273(95)90320-8 }}</ref><ref name=pmid8910344>{{cite journal |last=Wang |first=Z Z |authorlink= |author2=Hardy S F|author3=Hall Z W |date=November 1996 |title=Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo |journal=J. Biol. Chem. |volume=271 |issue=44 |pages=27575–84 |publisher= |location = UNITED STATES| issn = 0021-9258| pmid = 8910344 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1074/jbc.271.44.27575 }}</ref>


==See also==
== Interactions ==

⚫
CHRND has been shown to [[Protein-protein interaction|interact]] with [[Cholinergic receptor, nicotinic, alpha 1]].<ref name=pmid7695910>{{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | date = March 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 | doi-access = free }}</ref><ref name=pmid8910344>{{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = J. Biol. Chem. | volume = 271 | issue = 44 | pages = 27575–84 | date = November 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 | doi-access = free }}</ref>

== Clinical significance ==
Mutations in CHRND are known to cause the following conditions:<ref>{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/Q07001/entry |access-date=2023-07-08 |website=www.uniprot.org}}</ref>

* 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]]
* [[Nicotinic acetylcholine receptor]]


==References==
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Colledge M, Froehner SC | title = Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction | journal = Ann. N. Y. Acad. Sci. | volume = 841 | issue = 1| pages = 17–27 | year = 1998 | pmid = 9668219 | doi = 10.1111/j.1749-6632.1998.tb10907.x | bibcode = 1998NYASA.841...17C | s2cid = 41992031 }}
{{PBB_Further_reading
* {{cite journal | vauthors = Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J | title = 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 | journal = Ann. Hum. Genet. | volume = 54 | issue = Pt 3 | pages = 199–208 | year = 1990 | pmid = 2221824 | doi = 10.1111/j.1469-1809.1990.tb00378.x | s2cid = 151624 }}
| citations =
*{{cite journal | author=Colledge M, Froehner SC |title=Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction |journal=Ann. N. Y. Acad. Sci. |volume=841 |issue= |pages= 17–27 |year= 1998 |pmid= 9668219 |doi=10.1111/j.1749-6632.1998.tb10907.x }}
* {{cite journal | vauthors = Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J | title = A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671 | journal = J. Neurosci. | volume = 9 | issue = 3 | pages = 1082–96 | year = 1989 | pmid = 2564429 | doi = 10.1523/JNEUROSCI.09-03-01082.1989| pmc = 6569985 | doi-access = free }}
*{{cite journal | author=Beeson D, Jeremiah S, West LF, et al. |title=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 |journal=Ann. Hum. Genet. |volume=54 |issue= Pt 3 |pages= 199–208 |year= 1990 |pmid= 2221824 |doi=10.1111/j.1469-1809.1990.tb00378.x }}
* {{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | year = 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 | doi-access = free }}
*{{cite journal | author=Luther MA, Schoepfer R, Whiting P, et al. |title=A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671 |journal=J. Neurosci. |volume=9 |issue= 3 |pages= 1082–96 |year= 1989 |pmid= 2564429 |doi= }}
* {{cite journal | vauthors = Pasteris NG, Trask BJ, Sheldon S, Gorski JL | title = Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35 | journal = Hum. Mol. Genet. | volume = 2 | issue = 7 | pages = 953–9 | year = 1993 | pmid = 8103404 | doi = 10.1093/hmg/2.7.953 }}
*{{cite journal | author=Kreienkamp HJ, Maeda RK, Sine SM, Taylor P |title=Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor |journal=Neuron |volume=14 |issue= 3 |pages= 635–44 |year= 1995 |pmid= 7695910 |doi=10.1016/0896-6273(95)90320-8 }}
* {{cite journal | vauthors = Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM | title = New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome | journal = Hum. Mol. Genet. | volume = 5 | issue = 9 | pages = 1217–27 | year = 1996 | pmid = 8872460 | doi = 10.1093/hmg/5.9.1217 | doi-access = free }}
*{{cite journal | author=Pasteris NG, Trask BJ, Sheldon S, Gorski JL |title=Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35 |journal=Hum. Mol. Genet. |volume=2 |issue= 7 |pages= 953–9 |year= 1993 |pmid= 8103404 |doi=10.1093/hmg/2.7.953 }}
* {{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = J. Biol. Chem. | volume = 271 | issue = 44 | pages = 27575–84 | year = 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 | doi-access = free }}
*{{cite journal | author=Engel AG, Ohno K, Milone M, et al. |title=New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome |journal=Hum. Mol. Genet. |volume=5 |issue= 9 |pages= 1217–27 |year= 1997 |pmid= 8872460 |doi=10.1093/hmg/5.9.1217 }}
* {{cite journal | vauthors = Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D | title = Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita | journal = J. Clin. Invest. | volume = 108 | issue = 1 | pages = 125–30 | year = 2001 | pmid = 11435464 | pmc = 209343 | doi = 10.1172/JCI12935 }}
*{{cite journal | author=Wang ZZ, Hardy SF, Hall ZW |title=Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo |journal=J. Biol. Chem. |volume=271 |issue= 44 |pages= 27575–84 |year= 1996 |pmid= 8910344 |doi=10.1074/jbc.271.44.27575 }}
* {{cite journal | vauthors = 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 | title = Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms | journal = Ann. Neurol. | volume = 51 | issue = 1 | pages = 102–12 | year = 2002 | pmid = 11782989 | pmc = 4841278 | doi = 10.1002/ana.10077 }}
*{{cite journal | author=Brownlow S, Webster R, Croxen R, et al. |title=Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita |journal=J. Clin. Invest. |volume=108 |issue= 1 |pages= 125–30 |year= 2001 |pmid= 11435464 |doi=10.1172/JCI12935 | pmc=209343 }}
* {{cite journal | vauthors = Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG | title = Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation | journal = Neurology | volume = 59 | issue = 12 | pages = 1881–8 | year = 2002 | pmid = 12499478 | doi = 10.1212/01.wnl.0000042422.87384.2f | s2cid = 35612575 }}
*{{cite journal | author=Gomez CM, Maselli RA, Vohra BP, et al. |title=Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms |journal=Ann. Neurol. |volume=51 |issue= 1 |pages= 102–12 |year= 2002 |pmid= 11782989 |doi=10.1002/ana.10077 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, et al. |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Shen XM, Ohno K, Fukudome T, et al. |title=Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation |journal=Neurology |volume=59 |issue= 12 |pages= 1881–8 |year= 2003 |pmid= 12499478 |doi= 10.1212/01.wnl.0000042422.87384.2f}}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, et al. |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Hillier LW, Graves TA, Fulton RS, et al. |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4 |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|CHRND+protein,+human}}
* {{MeshName|CHRND+protein,+human}}
* {{UCSC gene info|CHRND}}


{{NLM content}}
{{NLM content}}
{{Ligand-gated ion channels}}
{{Ligand-gated ion channels}}

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[[Category:Ion channels]]
[[Category:Ion channels]]
[[Category:Nicotinic acetylcholine receptors]]




Latest revision as of 04:21, 9 July 2023

CHRND
Identifiers
AliasesCHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit
External IDsOMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 1: 87.12 – 87.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[5]

Function

[edit]

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

[edit]

CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[6][7]

Clinical significance

[edit]

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

[edit]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135902 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026251 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta".
  6. ^ Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
  7. ^ 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". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
  8. ^ "UniProt". www.uniprot.org. Retrieved 2023-07-08.

Further reading

[edit]
[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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