Biology:Glycine receptor, alpha 1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.[1][2]
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.[3]
Clinical significance
Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.[4][5]
See also
- Glycine receptor
- Stiff person syndrome
- Hyperekplexia
References
- ↑ "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. Sep 1992. doi:10.1002/ana.410310615. PMID 1355335.
- ↑ "Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia". Nat Genet 5 (4): 351–358. Mar 1994. doi:10.1038/ng1293-351. PMID 8298642.
- ↑ "Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2741.
- ↑ "Molecular genetic reevaluation of the Dutch hyperekplexia family". Arch. Neurol. 52 (6): 578–582. June 1995. doi:10.1001/archneur.1995.00540300052012. PMID 7763205.
- ↑ "Hyperekplexia: a treatable neurogenetic disease". Brain Dev. 24 (7): 669–674. October 2002. doi:10.1016/S0387-7604(02)00095-5. PMID 12427512.
Further reading
- "Phosphorylation of the 48-kDa subunit of the glycine receptor by protein kinase C". J. Biol. Chem. 266 (1): 559–566. 1991. doi:10.1016/S0021-9258(18)52472-8. PMID 1845981.
- "Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes". EMBO J. 9 (3): 771–776. 1990. doi:10.1002/j.1460-2075.1990.tb08172.x. PMID 2155780.
- "Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors". FEBS Lett. 336 (3): 540–544. 1994. doi:10.1016/0014-5793(93)80872-R. PMID 7506679.
- "Mutational analysis of familial and sporadic hyperekplexia". Ann. Neurol. 38 (1): 85–91. 1995. doi:10.1002/ana.410380115. PMID 7611730.
- "Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH". Genomics 22 (2): 491–493. 1995. doi:10.1006/geno.1994.1419. PMID 7806244.
- "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. 1995. doi:10.1093/hmg/3.12.2175. PMID 7881416.
- "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. 1994. doi:10.1038/ng0694-131. PMID 7920629.
- "Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia". EMBO J. 13 (18): 4223–4228. 1994. doi:10.1002/j.1460-2075.1994.tb06742.x. PMID 7925268.
- "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. 1995. doi:10.1093/hmg/3.7.1201. PMID 7981700.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers". EMBO J. 13 (6): 1493. 1994. doi:10.1002/j.1460-2075.1994.tb06405.x. PMID 8137830.
- "A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia". Am. J. Hum. Genet. 58 (2): 420–422. 1996. PMID 8571969.
- "A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors". Am. J. Hum. Genet. 58 (5): 989–997. 1996. PMID 8651283.
- "Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis". J. Med. Genet. 33 (5): 435–436. 1996. doi:10.1136/jmg.33.5.435. PMID 8733061.
- "Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR". Genome Res. 6 (12): 1200–1206. 1997. doi:10.1101/gr.6.12.1200. PMID 8973915.
- "Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor". Hum. Mutat. 9 (2): 185–187. 1997. doi:10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z. PMID 9067762.
- "Hyperekplexia-like syndromes without mutations in the GLRA1 gene". Clinical Neurology and Neurosurgery 99 (3): 172–178. 1998. doi:10.1016/S0303-8467(97)00022-X. PMID 9350397.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
External links
- 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.
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