GLRA1

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

PBB_Summary
section_title =
summary_text = 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] [cite web | title = Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2741| accessdate = ]

ee also

* Glycine receptor
* Stiff person syndrome

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Ryan SG, Sherman SL, Terry JC, "et al." |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 |year= 1992 |pmid= 1355335 |doi= 10.1002/ana.410310615
*cite journal | author=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 | author=Grenningloh G, Schmieden V, Schofield PR, "et al." |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 |doi=
*cite journal | author=Langosch D, Herbold A, Schmieden V, "et al." |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=
*cite journal | author=Shiang R, Ryan SG, Zhu YZ, "et al." |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 | author=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 | author=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=
*cite journal | author=Ryan SG, Buckwalter MS, Lynch JW, "et al." |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 | author=Langosch D, Laube B, Rundström N, "et al." |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 |doi=
*cite journal | author=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=
*cite journal | author=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=
*cite journal | author=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 |doi=
*cite journal | author=Shiang R, Ryan SG, Zhu YZ, "et al." |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 |year= 1994 |pmid= 8298642 |doi= 10.1038/ng1293-351
*cite journal | author=Milani N, Dalprá L, del Prete A, "et al." |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 |doi=
*cite journal | author=Brune W, Weber RG, Saul B, "et al." |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 |doi=
*cite journal | author=Elmslie FV, Hutchings SM, Spencer V, "et al." |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 |doi=
*cite journal | author=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=
*cite journal | author=Seri M, Bolino A, Galietta LJ, "et al." |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 |doilabel=10.1002/(SICI)1098-1004(1997)9:2185::AID-HUMU143.0.CO;2-Z
*cite journal | author=Vergouwe MN, Tijssen MA, Shiang R, "et al." |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=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |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=

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