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Glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome), also known as GLRA1, is a human gene.

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 (MIM 138492) encodes the beta subunit of the receptor.[supplied by OMIM][1]

See alsoEdit


Further readingEdit

  • Ryan SG, Sherman SL, Terry JC, et al. (1992). Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.. Ann. Neurol. 31 (6): 663–8.
  • Ruiz-Gómez A, Vaello ML, Valdivieso F, Mayor F (1991). Phosphorylation of the 48-kDa subunit of the glycine receptor by protein kinase C.. J. Biol. Chem. 266 (1): 559–66.
  • Grenningloh G, Schmieden V, Schofield PR, et al. (1990). Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.. EMBO J. 9 (3): 771–6.
  • Langosch D, Herbold A, Schmieden V, et al. (1994). Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors.. FEBS Lett. 336 (3): 540–4.
  • Shiang R, Ryan SG, Zhu YZ, et al. (1995). Mutational analysis of familial and sporadic hyperekplexia.. Ann. Neurol. 38 (1): 85–91.
  • Baker E, Sutherland GR, Schofield PR (1995). Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH.. Genomics 22 (2): 491–3.
  • Rees MI, Andrew M, Jawad S, Owen MJ (1995). 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.. Hum. Mol. Genet. 3 (12): 2175–9.
  • Ryan SG, Buckwalter MS, Lynch JW, et al. (1994). A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.. Nat. Genet. 7 (2): 131–5.
  • Langosch D, Laube B, Rundström N, et al. (1994). Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.. EMBO J. 13 (18): 4223–8.
  • Schorderet DF, Pescia G, Bernasconi A, Regli F (1995). An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.. Hum. Mol. Genet. 3 (7): 1201.
  • Maruyama K, Sugano S (1994). Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.. Gene 138 (1-2): 171–4.
  • Bormann J, Rundström N, Betz H, Langosch D (1994). Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers.. EMBO J. 13 (6): 1493.
  • Shiang R, Ryan SG, Zhu YZ, et al. (1994). Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.. Nat. Genet. 5 (4): 351–8.
  • Milani N, Dalprá L, del Prete A, et al. (1996). A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.. Am. J. Hum. Genet. 58 (2): 420–2.
  • Brune W, Weber RG, Saul B, et al. (1996). A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.. Am. J. Hum. Genet. 58 (5): 989–97.
  • Elmslie FV, Hutchings SM, Spencer V, et al. (1996). Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.. J. Med. Genet. 33 (5): 435–6.
  • Monani U, Burghes AH (1997). Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR.. Genome Res. 6 (12): 1200–6.
  • Seri M, Bolino A, Galietta LJ, et al. (1997). Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.. Hum. Mutat. 9 (2): 185–7.
  • Vergouwe MN, Tijssen MA, Shiang R, et al. (1998). Hyperekplexia-like syndromes without mutations in the GLRA1 gene.. Clinical neurology and neurosurgery 99 (3): 172–8.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.. Gene 200 (1-2): 149–56.

Template:Membrane-protein-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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