Catalog No.
YHD57401
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Ala32-Gln247
Predicted molecular weight
27.32 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
P23415
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Glycine receptor 48 kDa subunit, Glycine receptor strychnine-binding subunit, Glycine receptor subunit alpha-1, GLRA1
The implications of hyperekplexia on children's quality of life: a report on two cases., PMID:40136121
The mRNA expression profile of glycine receptor subunits alpha 1, alpha 2, alpha 4 and beta in female and male mice., PMID:39580061
DNA methylation and histone modifications associated with antipsychotic treatment: a systematic review., PMID:39227433
Gating mechanism of the human α1β GlyR by glycine., PMID:39146932
Hyperekplexia: A Single-Center Experience., PMID:39051604
[Clinical and genetic analysis of three children with Hyperekplexia]., PMID:38818557
The mechanisms underlying alcohol-induced decreased splenic size: A network meta-analysis study., PMID:38059389
Streptozotocin-Induced Diabetic Rats Showed a Differential Glycine Receptor Expression in the Spinal Cord: A GlyR Role in Diabetic Neuropathy., PMID:38017313
Role of the Glycine Receptor β Subunit in Synaptic Localization and Pathogenicity in Severe Startle Disease., PMID:37963764
Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay., PMID:37903619
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia., PMID:37222814
Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets., PMID:36656641
Single-cell RNA-seq transcriptomic landscape of human and mouse islets and pathological alterations of diabetes., PMID:36339258
Overexpression of wild type glycine alpha 1 subunit rescues ethanol sensitivity in accumbal receptors and reduces binge drinking in mice., PMID:36175550
Hereditary Hyperekplexia in Saudi Arabia., PMID:35841715
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes., PMID:35636282
Hyperekplexia: A Frequent Near Miss in Infants and Young Children., PMID:35263902
Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease., PMID:34630038
Deficiency of Intellectual Disability-Related Gene Brpf1 Attenuated Hippocampal Excitatory Synaptic Transmission and Impaired Spatial Learning and Memory Ability., PMID:34485298
Evaluating of Gene Expression Alteration after Garlic Consumption, Analyzing through Bioinformatics Approach., PMID:34400942
Advances in hyperekplexia and other startle syndromes., PMID:34379238
Sex and Menopause Modify the Effect of Single Nucleotide Polymorphism Genotypes on Fibrosis in NAFLD., PMID:33860118
Functional expression of glycine receptors in DRG neurons of mice., PMID:33727056
Glycinergic Inhibition Targets Specific Off Cone Bipolar Cells in Primate Retina., PMID:33188005
Mechanisms of activation and desensitization of full-length glycine receptor in lipid nanodiscs., PMID:32719334
A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition., PMID:32354853
C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report., PMID:32332682
Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder., PMID:31392847
Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish., PMID:31048868
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report., PMID:30866851
Does acute heat stress differentially-modulate expression of ionotropic neurotransmitter receptors in the RVLM of young and aged F344 rats?, PMID:30287307
Impaired Glycine Receptor Trafficking in Neurological Diseases., PMID:30186111
A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia., PMID:30182260
A child with hyperekplexia and epileptic myoclonus., PMID:30078784
[A pedigree of hereditary hyperekplexia]., PMID:29962440
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?, PMID:29602144
Identification and analysis of hub genes and networks related to hypoxia preconditioning in mice (No 035215)., PMID:29552280
Altered transcription of glutamatergic and glycinergic receptors in spinal cord dorsal horn following spinal cord transection is minimally affected by passive exercise of the hindlimbs., PMID:29356168
The effects of high glucose exposure on global gene expression and DNA methylation in human pancreatic islets., PMID:29183809
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature., PMID:28985719
Dimensional Traits of Schizotypy Associated With Glycine Receptor GLRA1 Polymorphism: An Exploratory Candidate-Gene Association Study., PMID:28758885
Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene., PMID:28566159
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients., PMID:27843043
Inter- and Intra-Subunit Butanol/Isoflurane Sites of Action in the Human Glycine Receptor., PMID:27378846
Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia., PMID:27226610
Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood., PMID:25861810
Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia., PMID:25489054
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia., PMID:25356525
Adeno-associated virus-RNAi of GlyRα1 and characterization of its synapse-specific inhibition in OFF alpha transient retinal ganglion cells., PMID:25231618
Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1., PMID:25036534
For research use only. Not for human or drug use.
