Glycine receptor, alpha 1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
GLRA1
PDB 1mot EBI.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GLRA1, HKPX1, STHE, Glycine receptor, alpha 1, glycine receptor alpha 1
External IDs MGI: 95747 HomoloGene: 20083 GeneCards: 2741
RNA expression pattern
PBB GE GLRA1 207972 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000171
NM_001146040
NM_001292000

NM_001290821
NM_020492

RefSeq (protein)

NP_000162.2
NP_001139512.1

NP_001277750.1

Location (UCSC) Chr 5: 151.82 – 151.92 Mb Chr 11: 55.51 – 55.61 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.[1][2]

Function[edit]

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 of alpha and beta subunits. The GLRB gene encodes the beta subunit of the receptor.[3]

Clinical signficance[edit]

Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.[4][5]

See also[edit]

References[edit]

  1. ^ 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): 663–8. doi:10.1002/ana.410310615. PMID 1355335. 
  2. ^ 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): 351–8. doi:10.1038/ng1293-351. PMID 8298642. 
  3. ^ "Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)". 
  4. ^ 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): 578–82. doi:10.1001/archneur.1995.00540300052012. PMID 7763205. 
  5. ^ Zhou L, Chillag KL, Nigro MA (October 2002). "Hyperekplexia: a treatable neurogenetic disease". Brain Dev. 24 (7): 669–74. doi:10.1016/S0387-7604(02)00095-5. PMID 12427512. 

Further reading[edit]

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