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: 79158
MIM: 607840
HGNC: 29670
Ensembl: ENSG00000111670
Variants:
dbSNP: 79158
ClinVar: 79158
TCGA: ENSG00000111670
COSMIC: GNPTAB
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 |
|---|---|---|---|
| 34341521 | 2021 | Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III. | 3 |
| 34341521 | 2021 | Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III. | 3 |
| 31579991 | 2020 | Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta. | 3 |
| 32199982 | 2020 | Structures of Bacterial MraY and Human GPT Provide Insights into Rational Antibiotic Design. | 9 |
| 32220096 | 2020 | Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention. | 1 |
| 32560373 | 2020 | Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally? | 0 |
| 32651481 | 2020 | Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. | 3 |
| 31579991 | 2020 | Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta. | 3 |
| 32199982 | 2020 | Structures of Bacterial MraY and Human GPT Provide Insights into Rational Antibiotic Design. | 9 |
| 32220096 | 2020 | Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention. | 1 |
| 32560373 | 2020 | Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally? | 0 |
| 32651481 | 2020 | Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. | 3 |
| 30655525 | 2019 | A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus. | 32 |
| 30882951 | 2019 | The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. | 26 |
| 31003007 | 2019 | Genetic factors and therapy outcomes in persistent developmental stuttering. | 5 |
Citation
Dessen P
GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta)
Atlas Genet Cytogenet Oncol Haematol. 2014-01-01
Online version: http://atlasgeneticsoncology.org/gene/53664/gnptab-(n-acetylglucosamine-1-phosphate-transferase-subunits-alpha-and-beta)
