Glycine receptor, alpha 1

(Redirected from STHE)

Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.[5][6]

GLRA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGLRA1, HKPX1, STHE, Glycine receptor, alpha 1, glycine receptor alpha 1
External IDsOMIM: 138491; MGI: 95747; HomoloGene: 20083; GeneCards: GLRA1; OMA:GLRA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000171
NM_001146040
NM_001292000

NM_001290821
NM_020492

RefSeq (protein)

NP_000162
NP_001139512
NP_001278929

NP_001277750
NP_065238

Location (UCSC)Chr 5: 151.82 – 151.92 MbChr 11: 55.41 – 55.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed solely of alpha subunits. The GLRB gene encodes the alpha subunit of the receptor.[7]

Clinical significance

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Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.[8][9]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000145888Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000263Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW (Sep 1992). "Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis". Ann Neurol. 31 (6): 663–668. doi:10.1002/ana.410310615. PMID 1355335. S2CID 28879043.
  6. ^ Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ (Mar 1994). "Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia". Nat Genet. 5 (4): 351–358. doi:10.1038/ng1293-351. PMID 8298642. S2CID 21410824.
  7. ^ "Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)".
  8. ^ Tijssen MA, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW (June 1995). "Molecular genetic reevaluation of the Dutch hyperekplexia family". Arch. Neurol. 52 (6): 578–582. doi:10.1001/archneur.1995.00540300052012. hdl:2066/20657. PMID 7763205. S2CID 14067463.
  9. ^ Zhou L, Chillag KL, Nigro MA (October 2002). "Hyperekplexia: a treatable neurogenetic disease". Brain Dev. 24 (7): 669–674. doi:10.1016/S0387-7604(02)00095-5. PMID 12427512. S2CID 40864297.

Further reading

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  • Overview of all the structural information available in the PDB for UniProt: P23415 (Glycine receptor subunit alpha-1) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.