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: 175
MIM: 613228
HGNC: 318
Ensembl: ENSG00000038002
Variants:
dbSNP: 175
ClinVar: 175
TCGA: ENSG00000038002
COSMIC: AGA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000038002 | ENST00000264595 | P20933 |
| ENSG00000038002 | ENST00000502310 | H0Y9C7 |
| ENSG00000038002 | ENST00000510635 | H0Y8L9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30901125 | 2019 | The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria. | 0 |
| 30901125 | 2019 | The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria. | 0 |
| 29993127 | 2018 | Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. | 2 |
| 29993127 | 2018 | Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. | 2 |
| 28457719 | 2017 | Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate. | 3 |
| 28457719 | 2017 | Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate. | 3 |
| 27471012 | 2016 | Development of a model system for neuronal dysfunction in Fabry disease. | 9 |
| 27471012 | 2016 | Development of a model system for neuronal dysfunction in Fabry disease. | 9 |
| 23271757 | 2014 | Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. | 7 |
| 23271757 | 2014 | Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. | 7 |
| 21854356 | 2012 | Expanding targets for a metabolic therapy of cancer: L-asparaginase. | 41 |
| 21854356 | 2012 | Expanding targets for a metabolic therapy of cancer: L-asparaginase. | 41 |
| 19100247 | 2009 | Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. | 6 |
| 19100247 | 2009 | Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. | 6 |
| 18992224 | 2008 | Structural basis of aspartylglucosaminuria. | 6 |
Citation
Dessen P
AGA (aspartylglucosaminidase)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/593/aga
