Gene: GLRA1

Alternate names for this Gene: HKPX1|STHE

Gene Summary: The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.1

Description of this Gene: glycine receptor alpha 1

Type of Gene: protein-coding

Gene: LOC112267935

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs890832 in GLRA1;LOC112267935 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs73794390 in GLRA1;LOC112267935 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121918408 in GLRA1;LOC112267935 gene and HYPEREKPLEXIA 1 PMID 7611730 1995 Mutational analysis of familial and sporadic hyperekplexia.

PMID 28138086 2017 Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis.

PMID 7981700 1994 An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.

PMID 8571969 1996 A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.

PMID 8733061 1996 Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

PMID 8298642 1993 Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

PMID 9009272 1997 Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.

PMID 7925268 1994 Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.

PMID 7518444 1994 Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor.

PMID 28122427 2017 Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes.

PMID 10514101 1999 Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.

PMID 7881416 1994 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.

PMID 9920650 1999 Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

PMID 25730860 2015 Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.

PMID 24108130 2013 New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

PMID 9067762 1997 Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.

PMID 20631190 2010 Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

rs890832 in GLRA1;LOC112267935 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.