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: 51172
MIM: 607985
HGNC: 17378
Ensembl: ENSG00000103174
Variants:
dbSNP: 51172
ClinVar: 51172
TCGA: ENSG00000103174
COSMIC: NAGPA
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Lysosome | KEGG | ko04142 |
| Lysosome | KEGG | hsa04142 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33993232 | 2022 | Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis. | 8 |
| 33993232 | 2022 | Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis. | 8 |
| 32109365 | 2020 | Crystal Structure of the Mannose-6-Phosphate Uncovering Enzyme. | 4 |
| 32109365 | 2020 | Crystal Structure of the Mannose-6-Phosphate Uncovering Enzyme. | 4 |
| 31003007 | 2019 | Genetic factors and therapy outcomes in persistent developmental stuttering. | 5 |
| 31003007 | 2019 | Genetic factors and therapy outcomes in persistent developmental stuttering. | 5 |
| 29289611 | 2018 | Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers. | 9 |
| 29289611 | 2018 | Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers. | 9 |
| 25643770 | 2015 | Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. | 4 |
| 25643770 | 2015 | Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. | 4 |
| 23572527 | 2013 | Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme. | 4 |
| 23572527 | 2013 | Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme. | 4 |
| 22884963 | 2012 | A role for inherited metabolic deficits in persistent developmental stuttering. | 11 |
| 22884963 | 2012 | A role for inherited metabolic deficits in persistent developmental stuttering. | 11 |
| 21956109 | 2011 | Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. | 10 |
Citation
Dessen P
NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70675/nagpa-(n-acetylglucosamine-1-phosphodiester-alpha-n-acetylglucosaminidase)
