Glycine receptor subunit alpha-1 is a
protein that in humans is encoded by the GLRA1gene.[5][6]
Function
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
Mutations in the gene have been associated with
hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.[8][9]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
PMID1355335.
S2CID28879043.
^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.
PMID8298642.
S2CID21410824.
Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ (1995). "Mutational analysis of familial and sporadic hyperekplexia". Ann. Neurol. 38 (1): 85–91.
doi:
10.1002/ana.410380115.
PMID7611730.
S2CID22129217.
Baker E,
Sutherland GR, Schofield PR (1995). "Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH". Genomics. 22 (2): 491–493.
doi:
10.1006/geno.1994.1419.
PMID7806244.
Rees MI, Andrew M, Jawad S, Owen MJ (1995). "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". Hum. Mol. Genet. 3 (12): 2175–2179.
doi:
10.1093/hmg/3.12.2175.
PMID7881416.
Ryan SG, Buckwalter MS, Lynch JW, Handford CA, Segura L, Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell P (1994). "A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse". Nat. Genet. 7 (2): 131–135.
doi:
10.1038/ng0694-131.
PMID7920629.
S2CID32946709.
Schorderet DF, Pescia G, Bernasconi A, Regli F (1995). "An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene". Hum. Mol. Genet. 3 (7): 1201.
doi:
10.1093/hmg/3.7.1201.
PMID7981700.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR (1998). "Hyperekplexia-like syndromes without mutations in the GLRA1 gene". Clinical Neurology and Neurosurgery. 99 (3): 172–178.
doi:
10.1016/S0303-8467(97)00022-X.
PMID9350397.
S2CID43274005.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
External links
Overview of all the structural information available in the
PDB for
UniProt: P23415 (Glycine receptor subunit alpha-1) at the
PDBe-KB.