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词条 Glycine receptor, alpha 1
释义

  1. Function

  2. Clinical significance

  3. See also

  4. References

  5. Further reading

{{Infobox_gene}}Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.[1][2]

Function

The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha and beta subunits. The GLRB gene encodes the beta subunit of the receptor.[3]

Clinical significance

Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.[4][5]

See also

  • Glycine receptor
  • Stiff person syndrome
  • Hyperekplexia

References

1. ^{{cite journal |vauthors=Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW | title = Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis | journal = Ann Neurol | volume = 31 | issue = 6 | pages = 663–8 |date=Sep 1992 | pmid = 1355335 | pmc = | doi = 10.1002/ana.410310615 }}
2. ^{{cite journal |vauthors=Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ | title = Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia | journal = Nat Genet | volume = 5 | issue = 4 | pages = 351–8 |date=Mar 1994 | pmid = 8298642 | pmc = | doi = 10.1038/ng1293-351 }}
3. ^{{cite web | title = Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2741| accessdate = }}
4. ^{{cite journal |vauthors=Tijssen MA, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW | title = Molecular genetic reevaluation of the Dutch hyperekplexia family | journal = Arch. Neurol. | volume = 52 | issue = 6 | pages = 578–82 |date=June 1995 | pmid = 7763205 | doi =10.1001/archneur.1995.00540300052012 }}
5. ^{{cite journal |vauthors=Zhou L, Chillag KL, Nigro MA | title = Hyperekplexia: a treatable neurogenetic disease | journal = Brain Dev. | volume = 24 | issue = 7 | pages = 669–74 |date=October 2002 | pmid = 12427512 | doi =10.1016/S0387-7604(02)00095-5 }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Ruiz-Gómez A, Vaello ML, Valdivieso F, Mayor F |title=Phosphorylation of the 48-kDa subunit of the glycine receptor by protein kinase C |journal=J. Biol. Chem. |volume=266 |issue= 1 |pages= 559–66 |year= 1991 |pmid= 1845981 |doi= }}
  • {{cite journal |vauthors=Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T, Mohandas TK, Becker CM, Betz H |title=Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes |journal=EMBO J. |volume=9 |issue= 3 |pages= 771–6 |year= 1990 |pmid= 2155780 | pmc=551735 |doi= }}
  • {{cite journal |vauthors=Langosch D, Herbold A, Schmieden V, Borman J, Kirsch J |title=Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors |journal=FEBS Lett. |volume=336 |issue= 3 |pages= 540–4 |year= 1994 |pmid= 7506679 |doi=10.1016/0014-5793(93)80872-R }}
  • {{cite journal |vauthors=Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ |title=Mutational analysis of familial and sporadic hyperekplexia |journal=Ann. Neurol. |volume=38 |issue= 1 |pages= 85–91 |year= 1995 |pmid= 7611730 |doi= 10.1002/ana.410380115 }}
  • {{cite journal |vauthors=Baker E, Sutherland GR, Schofield PR |title=Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH |journal=Genomics |volume=22 |issue= 2 |pages= 491–3 |year= 1995 |pmid= 7806244 |doi= 10.1006/geno.1994.1419 }}
  • {{cite journal |vauthors=Rees MI, Andrew M, Jawad S, Owen MJ |title=Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor |journal=Hum. Mol. Genet. |volume=3 |issue= 12 |pages= 2175–9 |year= 1995 |pmid= 7881416 |doi=10.1093/hmg/3.12.2175 }}
  • {{cite journal |vauthors=Ryan SG, Buckwalter MS, Lynch JW, Handford CA, Segura L, Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell P |title=A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse |journal=Nat. Genet. |volume=7 |issue= 2 |pages= 131–5 |year= 1994 |pmid= 7920629 |doi= 10.1038/ng0694-131 }}
  • {{cite journal |vauthors=Langosch D, Laube B, Rundström N, Schmieden V, Bormann J, Betz H |title=Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia |journal=EMBO J. |volume=13 |issue= 18 |pages= 4223–8 |year= 1994 |pmid= 7925268 | pmc=395349 |doi= }}
  • {{cite journal |vauthors=Schorderet DF, Pescia G, Bernasconi A, Regli F |title=An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene |journal=Hum. Mol. Genet. |volume=3 |issue= 7 |pages= 1201 |year= 1995 |pmid= 7981700 |doi=10.1093/hmg/3.7.1201 }}
  • {{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
  • {{cite journal |vauthors=Bormann J, Rundström N, Betz H, Langosch D |title=Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers |journal=EMBO J. |volume=13 |issue= 6 |pages= 1493 |year= 1994 |pmid= 8137830 | pmc=394970 |doi= }}
  • {{cite journal |vauthors=Milani N, Dalprá L, del Prete A, Zanini R, Larizza L |title=A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia |journal=Am. J. Hum. Genet. |volume=58 |issue= 2 |pages= 420–2 |year= 1996 |pmid= 8571969 | pmc=1914546 |doi= }}
  • {{cite journal |vauthors=Brune W, Weber RG, Saul B, von Knebel Doeberitz M, Grond-Ginsbach C, Kellerman K, Meinck HM, Becker CM |title=A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors |journal=Am. J. Hum. Genet. |volume=58 |issue= 5 |pages= 989–97 |year= 1996 |pmid= 8651283 | pmc=1914607 |doi= }}
  • {{cite journal |vauthors=Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M |title=Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis |journal=J. Med. Genet. |volume=33 |issue= 5 |pages= 435–6 |year= 1996 |pmid= 8733061 | pmc=1050620 |doi=10.1136/jmg.33.5.435 }}
  • {{cite journal |vauthors=Monani U, Burghes AH |title=Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR |journal=Genome Res. |volume=6 |issue= 12 |pages= 1200–6 |year= 1997 |pmid= 8973915 |doi=10.1101/gr.6.12.1200 }}
  • {{cite journal |vauthors=Seri M, Bolino A, Galietta LJ, Lerone M, Silengo M, Romeo G |title=Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor |journal=Hum. Mutat. |volume=9 |issue= 2 |pages= 185–7 |year= 1997 |pmid= 9067762 |doi= 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z }}
  • {{cite journal |vauthors=Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR |title=Hyperekplexia-like syndromes without mutations in the GLRA1 gene |journal=Clinical Neurology and Neurosurgery |volume=99 |issue= 3 |pages= 172–8 |year= 1998 |pmid= 9350397 |doi=10.1016/S0303-8467(97)00022-X }}
  • {{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
{{refend}}{{NLM content}}{{Ligand-gated ion channels}}{{membrane-protein-stub}}

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