GLRB Antibody

1. GLRB variants are associated with etiopathogenesis of fear and anxiety disorders. PMID: 28872638
2. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P = 3.3 x 10 - 8; rs191260602, P = 3.9 x 10- 8).GLRB gene expression was found to be modulated by rs7688285 in brain tissue, as well as cell culture. PMID: 28167838
3. Whole-exome sequencing in ASD patients from each family identified a second rare inherited genetic variant, affecting GLRB expressed in inhibitory or in excitatory synapses. PMID: 26055424
4. We report novel GLRB mutations in hyperekplexia PMID: 23182654
5. Systematic DNA sequencing of GLRB in individuals with hyperekplexia revealed new missense mutations in GLRB, resulting in M177R, L285R and W310C substitutions. PMID: 23238346
6. This study describes the definitive assignment of GLRB as the third major gene for hyperekplexia and impacts on the genetic stratification and biological causation of this neonatal/paediatric disorder. PMID: 23184146
7. Distinct properties of glycine receptor beta+/alpha- interface: unambiguously characterizing heteromeric interface reconstituted in homomeric protein. PMID: 22535951
8. This study presents a large family with Hereditary hyperekplexia (HH) as a result of homozygous mutation in GLRB. PMID: 21391991
9. The authors have identified a protein kinase C (PKC) phosphorylation site within the cytoplasmic domain of the beta-subunit of the GlyR (residue S403) that causes a reduction of the binding affinity between the receptor and gephyrin. PMID: 21829170
10. Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation PMID: 14698963

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HGNC: 4329

OMIM: 138492

KEGG: hsa:2743

STRING: 9606.ENSP00000264428

UniGene: Hs.32973