Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2741
MIM: 138491
HGNC: 4326
Ensembl: ENSG00000145888
Variants:
dbSNP: 2741
ClinVar: 2741
TCGA: ENSG00000145888
COSMIC: GLRA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000145888 | ENST00000274576 | P23415 |
| ENSG00000145888 | ENST00000455880 | P23415 |
| ENSG00000145888 | ENST00000462581 | E5RJ70 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36434917 | 2022 | Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene. | 0 |
| 36434917 | 2022 | Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene. | 0 |
| 31757808 | 2020 | The synthetic cannabinoid dehydroxylcannabidiol restores the function of a major GABA(A) receptor isoform in a cell model of hyperekplexia. | 3 |
| 32354853 | 2020 | A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition. | 7 |
| 32445491 | 2020 | The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents. | 2 |
| 31757808 | 2020 | The synthetic cannabinoid dehydroxylcannabidiol restores the function of a major GABA(A) receptor isoform in a cell model of hyperekplexia. | 3 |
| 32354853 | 2020 | A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition. | 7 |
| 32445491 | 2020 | The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents. | 2 |
| 30721695 | 2019 | Ubiquitination and inhibition of glycine receptor by HUWE1 in spinal cord dorsal horn. | 8 |
| 30866851 | 2019 | Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report. | 4 |
| 30721695 | 2019 | Ubiquitination and inhibition of glycine receptor by HUWE1 in spinal cord dorsal horn. | 8 |
| 30866851 | 2019 | Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report. | 4 |
| 28758885 | 2018 | Dimensional Traits of Schizotypy Associated With Glycine Receptor GLRA1 Polymorphism: An Exploratory Candidate-Gene Association Study. | 3 |
| 29149236 | 2018 | Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity. | 15 |
| 29941455 | 2018 | Multiple regions in the extracellular domain of the glycine receptor determine receptor activity. | 3 |
Citation
Dessen P
GLRA1 (glycine receptor alpha 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56133/glra1-(glycine-receptor-alpha-1)
