Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
C16orf27,GNPTAG,LP2537,RJD9
FUSION GENES
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: 84572
MIM: 607838
HGNC: 23026
Ensembl: ENSG00000090581
Variants:
dbSNP: 84572
ClinVar: 84572
TCGA: ENSG00000090581
COSMIC: GNPTG
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 |
|---|---|---|---|
| 33507475 | 2021 | Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. | 0 |
| 34116066 | 2021 | UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation. | 2 |
| 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 |
| 33507475 | 2021 | Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. | 0 |
| 34116066 | 2021 | UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation. | 2 |
| 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 |
| 32220096 | 2020 | Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention. | 1 |
| 32651481 | 2020 | Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. | 3 |
| 32220096 | 2020 | Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention. | 1 |
| 32651481 | 2020 | Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. | 3 |
| 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 |
| 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 |
| 29170090 | 2018 | Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients. | 8 |
Citation
Dessen P
GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma)
Atlas Genet Cytogenet Oncol Haematol. 2010-04-01
Online version: http://atlasgeneticsoncology.org/gene/51438/gnptg
