NAGLU (N-acetyl-alpha-glucosaminidase)

2015-10-01  

Identity

HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
CMT2V,MPS-IIIB,MPS3B,NAG,UFHSD
FUSION GENES

Other Information

Locus ID:

NCBI: 4669
MIM: 609701
HGNC: 7632
Ensembl: ENSG00000108784

Variants:

dbSNP: 4669
ClinVar: 4669
TCGA: ENSG00000108784
COSMIC: NAGLU

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108784ENST00000225927P54802
ENSG00000108784ENST00000225927A0A140VJE4
ENSG00000108784ENST00000586516K7ENX5
ENSG00000108784ENST00000590358K7END1
ENSG00000108784ENST00000591587K7EQH9
ENSG00000108784ENST00000592454K7ESD7

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Heparan sulfate degradationKEGGhsa_M00078
Heparan sulfate degradationKEGGM00078
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG degradationREACTOMER-HSA-2024096

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
116686112001Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.41
221025312012Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.24
229353512012Urinary N-acetyl-β-D glucosaminidase as a surrogate marker for renal function in autosomal dominant polycystic kidney disease: 1 year prospective cohort study.9
242667512014Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts.8
117934812002Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.7
275909252016A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.7
279071682016Are Urinary Tubular Injury Markers Useful in Chronic Kidney Disease? A Systematic Review and Meta Analysis.7
201385572010Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).6
299551332018Integrative analysis of oncogenic fusion genes and their functional impact in colorectal cancer.6
258188672015Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.5

Citation

Dessen P

NAGLU (N-acetyl-alpha-glucosaminidase)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55438/naglu