NP_000815.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
glycine receptor subunit beta isoform A
NCBI Official Synonym Full Names
glycine receptor, beta
NCBI Official Synonym Symbols
NCBI Protein Information
glycine receptor subunit beta
UniProt Protein Name
Glycine receptor subunit beta
UniProt Synonym Protein Names
Glycine receptor 58 kDa subunit
UniProt Entry Name
GLRB_HUMAN
NCBI Summary for GLRB
This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
UniProt Comments for GLRB
GLRB: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing). Defects in GLRB are the cause of hyperekplexia type 2 (HKPX2). HKPX2 is a neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile2 stimuli. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub- subfamily.
Protein type: Transporter; Membrane protein, multi-pass; Channel, ligand-gated; Membrane protein, integral; Transporter, ion channel
Chromosomal Location of Human Ortholog: 4q31.3
Cellular Component: postsynaptic membrane; integral to plasma membrane; plasma membrane; cell junction
Molecular Function: protein binding; extracellular-glycine-gated chloride channel activity; extracellular-glycine-gated ion channel activity; glycine binding; drug binding
Biological Process: nervous system development; synaptic transmission; regulation of membrane potential; startle response; synaptic transmission, glycinergic; visual perception; righting reflex; protein heterooligomerization; neuropeptide signaling pathway; acrosome reaction; ion transport; adult walking behavior; transmembrane transport
Disease: Hyperekplexia 2
Product References and Citations for anti-GLRB antibody
Joslyn, G., et al. Alcohol. Clin. Exp. Res. 34(5):800-812(2010) Wheeler, H.E., et al. PLoS Genet. 5 (10), E1000685 (2009) : Ziegler, E., et al. Naunyn Schmiedebergs Arch. Pharmacol. 380(4):277-291(2009) Tabakoff, B., et al. BMC Biol. 7, 70 (2009) : Ahrens, J., et al. Pharmacology 83(4):217-222(2009)
Research Articles on GLRB
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Products associated with anti-GLRB antibody
Pathways associated with anti-GLRB antibody
Diseases associated with anti-GLRB antibody
Organs/Tissues associated with anti-GLRB antibody
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