CHRND

From Wikipedia, the free encyclopedia

Cholinergic receptor, nicotinic, delta

Identifiers

CHRND; ACHRD; CMS2A; FCCMS; SCCMS

External IDs

OMIM: 100720 MGI: 87893 HomoloGene: 37340

Gene ontology
Molecular Function:	• nicotinic acetylcholine-activated cation-selective channel activity • ion channel activity • extracellular ligand-gated ion channel activity • acetylcholine receptor activity
Cellular Component:	• Golgi apparatus • plasma membrane • nicotinic acetylcholine-gated receptor-channel complex • integral to membrane • postsynaptic membrane
Biological Process:	• ion transport • muscle contraction • signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000751 (mRNA)
NP_000742 (protein)

NM_021600 (mRNA)
NP_067611 (protein)

Location

Chr 2: 233.1 - 233.11 Mb

Chr 1: 89.02 - 89.03 Mb

Pubmed search

[1]

[2]

Cholinergic receptor, nicotinic, delta, also known as CHRND, is a human gene.^[1]

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.^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

Nicotinic acetylcholine receptor

[edit] References

^ ^a ^b Entrez Gene: CHRND cholinergic receptor, nicotinic, delta.

[edit] 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: 17-27. PMID 9668219.
Beeson D, Jeremiah S, West LF, et al. (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. PMID 2221824.
Luther MA, Schoepfer R, Whiting P, et al. (1989). "A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671.". J. Neurosci. 9 (3): 1082-96. PMID 2564429.
Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor.". Neuron 14 (3): 635-44. PMID 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. PMID 8103404.
Engel AG, Ohno K, Milone M, et al. (1997). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.". Hum. Mol. Genet. 5 (9): 1217-27. PMID 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.". J. Biol. Chem. 271 (44): 27575-84. PMID 8910344.
Brownlow S, Webster R, Croxen R, et al. (2001). "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.". J. Clin. Invest. 108 (1): 125-30. PMID 11435464.
Gomez CM, Maselli RA, Vohra BP, et al. (2002). "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.". Ann. Neurol. 51 (1): 102-12. PMID 11782989.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Shen XM, Ohno K, Fukudome T, et al. (2003). "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.". Neurology 59 (12): 1881-8. PMID 12499478.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4.". Nature 434 (7034): 724-31. doi:10.1038/nature03466. PMID 15815621.

[edit] External links

MeSH CHRND+protein,+human

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v • d • e Ion channel, receptor: ligand-gated ion channels

Cys-loop receptors	5-HT/serotonin: 5-HT₃ (A) GABA: GABA A (α₁, α₂, α₃, α₄, α₅, α₆, β₁, β₂, β₃, γ₂, γ₃, δ, ε, π), GABA C (ρ₁, ρ₂) Glycine: α₁, α₂, β Nicotinic acetylcholine: α1, α2, α3, α4, α5, α7, α9, β1, β2, β3, β4, δ, ε, combinations ((α4)₂(β2)₃, (α7)₅, Ganglion type, Muscle type)

Ionotropic glutamates	AMPA (1, 2, 3, 4) - Kainate (1, 2, 3, 5) - NMDA (1, 2A, 2B, 2C, 2D)

ATP-gated channels	Purinergic receptors: P2X (1, 2, 3, 4, 5, 6, 7)