CHRND

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CHRND
Identifiers
AliasesCHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit
External IDsOMIM: 100720 MGI: 87893 HomoloGene: 37340 GeneCards: CHRND
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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 with Cholinergic receptor, nicotinic, 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

References

  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

External links

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