Gene table of NAGLU : N-acetyl-alpha-glucosaminidase

Gene-disease associations table

Disease IDDisease nameSource of annotation with NAGLUOMIM linkNumber of associated genesgenes
PS118220CHARCOT-MARIE-TOOTH DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 48KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS
PS607014MUCOPOLYSACCHARIDOSESClinVar, OMIM, HUMSAVAR link to OMIM 11ARSB, GLB1, SGSH, GALNS, NAGLU, IDUA, GNPTAB, GUSB, HYAL1, IDS, HGSNAT

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Annotation of the gene NAGLU

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Lysosomehsa041425.78
Glycosaminoglycan degradationhsa005318.45
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of carbohydratesR-HSA-713874.93
MPS IIIB - Sanfilippo syndrome BR-HSA-220628212.98
MucopolysaccharidosesR-HSA-22062819.52
Diseases of carbohydrate metabolismR-HSA-56630848.28
Heparan sulfate/heparin (HS-GAG) metabolismR-HSA-16380917.2
Diseases of metabolismR-HSA-56689146.57
MetabolismR-HSA-14307282.34
Glycosaminoglycan metabolismR-HSA-16303166.04
HS-GAG degradationR-HSA-20240968.52
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
hydrolase activity, acting on glycosyl bondsGO:00167984.91
hexosaminidase activityGO:00159297.03
alpha-N-acetylglucosaminidase activityGO:00045619.74
catalytic activityGO:00038241.05
hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045535.14