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: 2632
MIM: 607839
HGNC: 4180
Ensembl: ENSG00000114480
Variants:
dbSNP: 2632
ClinVar: 2632
TCGA: ENSG00000114480
COSMIC: GBE1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000114480 | ENST00000429644 | Q04446 |
| ENSG00000114480 | ENST00000489715 | E9PGM4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38012812 | 2024 | Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series. | 0 |
| 38012812 | 2024 | Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series. | 0 |
| 36456471 | 2023 | Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation. | 4 |
| 36456471 | 2023 | Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation. | 4 |
| 34633740 | 2022 | A family study implicates GBE1 in the etiology of autism spectrum disorder. | 1 |
| 34633740 | 2022 | A family study implicates GBE1 in the etiology of autism spectrum disorder. | 1 |
| 33141444 | 2021 | GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes. | 11 |
| 33141444 | 2021 | GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes. | 11 |
| 32439898 | 2020 | Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma. | 37 |
| 32439898 | 2020 | Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma. | 37 |
| 31221150 | 2019 | Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity. | 31 |
| 31221150 | 2019 | Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity. | 31 |
| 26670585 | 2016 | Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. | 0 |
| 27107456 | 2016 | A novel GBE1 gene variant in a child with glycogen storage disease type IV. | 4 |
| 26670585 | 2016 | Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. | 0 |
Citation
Dessen P
GBE1 (1,4-alpha-glucan branching enzyme 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63722/gbe1-(1-4-alpha-glucan-branching-enzyme-1)
