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

rs121918410 in GLRA1 gene and HYPEREKPLEXIA 1 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 9067762 1997 Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.

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

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

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

PMID 16236274 2006 Novel missense mutation (Y279S) in the GLRA1 gene causing 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 8298642 1993 Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

PMID 11389164 2001 Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.

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

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

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

PMID 7611730 1995 Mutational analysis of familial and sporadic hyperekplexia.

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

PMID 19732286 2009 Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability.

PMID 25036534 2014 Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

PMID 12169101 2002 Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.

PMID 15771552 2004 Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.