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Gene : GLRA1 Homo sapiens

Name  ? glycine receptor alpha 1 Cytological Location  5q33.1
Brief Description  glycine receptor alpha 1
Description  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. [provided by RefSeq, Dec 2015]
  • synonyms:
  • STHE,
  • uc003lur.4,
  • OTTHUMG00000130121,
  • STHE,
  • HKPX1,
  • GLRA1,
  • NM_000171,
  • glycine receptor, alpha 1 (startle disease/hyperekplexia),
  • HGNC:4326,
  • stiff person syndrome
  • identifiers:
  • 2741,
  • ENSG00000145888,
  • GLRA1

Genome feature

Region: gene ? Length: 102339  
Location: 5:151822513-151924851 reverse strand Cyto location: 5q33.1

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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833 SN Ps

4 Cross References

19 Data Sets

43 Homologues

0 Located Features

97 Rna Seq Results