≡

Glycine Receptor Alpha 1 (GLRa1)

[Edit]

STHE; Startle Disease/Hyperekplexia; Stiff Person Syndrome; Glycine receptor 48 kDa subunit; Glycine receptor strychnine-binding subunit

Glycine Receptor Alpha 1 (GLRa1)
CCC E858
HGNC 4326
MGI 95747
PubMed 20631190
RGD 2704
UniProt P23415
Wiki GLRA1
Glycine Receptor Alpha 1isthe alpha-1 subunit of the glycine receptor, a ligand-gated chloride channel. This 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. (Grenningloh et al., 1990). The GLRB gene (138492) encodes the beta subunit of the receptor.
From a human fetal brain cDNA library, Grenningloh et al. (1990) isolated 2 cDNAs encoding 2 forms of the strychnine-binding subunit of the inhibitory glycine receptor, alpha-1 and alpha-2 (GLRA2; 305990). The predicted 449-amino acid sequence of GLRA1 shows approximately 99% identity to the rat 48-kD polypeptide.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glycine Receptor Alpha 1 (GLRa1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glycine Receptor Alpha 1 (GLRa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glycine Receptor Alpha 1 (GLRa1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glycine Receptor Alpha 1 (GLRa1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glycine Receptor Alpha 1 (GLRa1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glycine Receptor Alpha 1 (GLRa1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glycine Receptor Alpha 1 (GLRa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glycine Receptor Alpha 1 (GLRa1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glycine Receptor Alpha 1 (GLRa1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glycine Receptor Alpha 1 (GLRa1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glycine Receptor Alpha 1 (GLRa1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glycine Receptor Alpha 1 (GLRa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glycine Receptor Alpha 1 (GLRa1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glycine Receptor Alpha 1 (GLRa1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glycine Receptor Alpha 1 (GLRa1) ELISA Kit Customized Service Offer
  1. "Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes."EMBO J. 9:771-776(1990) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor."J. Biol. Chem. 284:36128-36136(2009) [PubMed] [Europe PMC] [Abstract]
  5. "Stoichiometry of the human glycine receptor revealed by direct subunit counting."J. Neurosci. 32:12915-12920(2012) [PubMed] [Europe PMC] [Abstract]
  6. "NMR structure and backbone dynamics of the extended second transmembrane domain of the human neuronal glycine receptor alpha1 subunit."Biochemistry 42:3989-3995(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Structure and dynamics of the second and third transmembrane domains of human glycine receptor."Biochemistry 44:8790-8800(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia."Nat. Genet. 5:351-357(1993) [PubMed] [Europe PMC] [Abstract]
  9. "Mutational and haplotype analysis of the aplha1 subunit of the glycine receptor in hyperekplexia patients."Am. J. Hum. Genet. 55:A242-A242(1994)
  10. "Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia."EMBO J. 13:4223-4228(1994) [PubMed] [Europe PMC] [Abstract]
  11. "An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene."Hum. Mol. Genet. 3:1201-1201(1994) [PubMed] [Europe PMC] [Abstract]
  12. "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. 3:2175-2179(1994) [PubMed] [Europe PMC] [Abstract]
  13. "Mutational analysis of familial and sporadic hyperekplexia."Ann. Neurol. 38:85-91(1995) [PubMed] [Europe PMC] [Abstract]
  14. "A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia."Am. J. Hum. Genet. 58:420-422(1996) [PubMed] [Europe PMC] [Abstract]
  15. "Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis."J. Med. Genet. 33:435-436(1996) [PubMed] [Europe PMC] [Abstract]
  16. "Startle disease in an Italian family by mutation (K276E): the alpha-subunit of the inhibiting glycine receptor."Hum. Mutat. 9:185-187(1997) [PubMed] [Europe PMC] [Abstract]
  17. "Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations."Ann. Neurol. 46:634-638(1999) [PubMed] [Europe PMC] [Abstract]
  18. "Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating."J. Neurosci. 19:869-877(1999) [PubMed] [Europe PMC] [Abstract]