Identity
HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
CMT2V,MPS-IIIB,MPS3B,NAG,UFHSD
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: 4669
MIM: 609701
HGNC: 7632
Ensembl: ENSG00000108784
Variants:
dbSNP: 4669
ClinVar: 4669
TCGA: ENSG00000108784
COSMIC: NAGLU
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35241468 | 2022 | Variations of urinary N-acetyl-β-D-glucosaminidase levels and its performance in detecting acute kidney injury under different thyroid hormones levels: a prospectively recruited, observational study. | 3 |
| 35241468 | 2022 | Variations of urinary N-acetyl-β-D-glucosaminidase levels and its performance in detecting acute kidney injury under different thyroid hormones levels: a prospectively recruited, observational study. | 3 |
| 31825816 | 2020 | Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome. | 2 |
| 31825816 | 2020 | Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome. | 2 |
| 30802506 | 2019 | Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B. | 7 |
| 30802506 | 2019 | Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B. | 7 |
| 29606097 | 2018 | Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family. | 5 |
| 29955133 | 2018 | Integrative analysis of oncogenic fusion genes and their functional impact in colorectal cancer. | 21 |
| 29606097 | 2018 | Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family. | 5 |
| 29955133 | 2018 | Integrative analysis of oncogenic fusion genes and their functional impact in colorectal cancer. | 21 |
| 28306536 | 2017 | Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB. | 8 |
| 28751108 | 2017 | Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature. | 3 |
| 28306536 | 2017 | Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB. | 8 |
| 28751108 | 2017 | Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature. | 3 |
| 27590925 | 2016 | A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. | 16 |
Citation
Dessen P
NAGLU (N-acetyl-alpha-glucosaminidase)
Atlas Genet Cytogenet Oncol Haematol. 2015-10-01
Online version: http://atlasgeneticsoncology.org/gene/55438/naglu-(n-acetyl-alpha-glucosaminidase)
