GLRA1

Glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)
Identifiers
Symbols	GLRA1 ; MGC138878; MGC138879; STHE
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20083
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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]

See also

• Glycine receptor
• Stiff person syndrome

Further reading

• 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. doi:10.1002/ana.410310615. PMID 1355335.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 1845981.CS1 maint: Multiple names: authors list (link)
• 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. PMID 2155780.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7506679.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shiang R, Ryan SG, Zhu YZ; et al. (1995). "Mutational analysis of familial and sporadic hyperekplexia". Ann. Neurol. 38 (1): 85–91. doi:10.1002/ana.410380115. PMID 7611730.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1006/geno.1994.1419. PMID 7806244.CS1 maint: Multiple names: authors list (link)
• 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. PMID 7881416.CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1038/ng0694-131. PMID 7920629.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7925268.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7981700.CS1 maint: Multiple names: authors list (link)
• 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. PMID 8125298.
• 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. PMID 8137830.CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1038/ng1293-351. PMID 8298642.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8571969.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8651283.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8733061.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8973915.
• 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. doi:10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z. PMID 9067762.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9350397.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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