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NAGLU Gene

protein-coding   GIFtS: 59

GC17P037941
N-acetylglucosaminidase, alpha-
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 3.2.1.50 3
MPS-IIIB 2
MPS3B 2
N-acetyl-alpha-glucosaminidase 2, 3
NAG 1, 2, 3
UFHSD 2
UFHSD1 3
alpha-N-acetylglucosaminidase 2
Descriptions
N-acetylglucosaminidase, alpha- 2
External Ids
HGNC: 76321
Entrez Gene: 46692
UniProtKB: P548023
Ensembl: ENSG000001087847
Search outside databases for aliases for NAGLU gene

Previous GC identifers: GC17M040212 GC17M042827 GC17P040596 GC17P041061

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for NAGLU:
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal
N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the
cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This
disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.
[provided by RefSeq]

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802
Function: Involved in the degradation of heparan sulfate

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the NAGLU gene  

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q11-q21

NAGLU Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P037941:     (about GC identifiers)

Start:
37,941,477 bp from pter
End:
37,949,993 bp from pter
Size:
8,517 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000017.9  NT_010755.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802 (See protein sequence)
Recommended Name: Alpha-N-acetylglucosaminidase precursor  
Size: 743 amino acids; 82167 Da
Subunit: Monomer and homodimer
Caution: A MPS3B mutation at position 100 was erroneously reported (PubMed:9950362) as an amino
acid change from Arg to His. The right amino acid change is from His to Arg

REFSEQ proteins: NP_000254.2  

ENSEMBL proteins: 
ENSP00000366622 ENSP00000225927 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (NAGLU)
Human Recombinant Proteins from Abnova (NAGLU)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005764 lysosome TAS8650226
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Antibodies for NAGLU: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for NAGLU
Browse R&D Systems for Antibodies
Antibodies from Abcam (NAGLU), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (NAGLU)
Novus Biologicals Antibodies for NAGLU

Assays for NAGLU: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR007781 GlcNAc_a


   GeneDecks  NAGLU for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P54802

ProtoNet protein and cluster: P54802

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (NAGLU)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (NAGLU)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000263

              Applied Biosystems Silencer® siRNAs for NAGLU

              Sigma-Aldrich siRNA and siRNA Panels for NAGLU  
                     Sigma-Aldrich shRNA for NAGLU  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for NAGLU
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000263
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000263
                                 untagged cDNA clone in CMV expression vector: NM_000263 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000263

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802
Function: Involved in the degradation of heparan sulfate
Catalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in
N-acetyl-alpha-D-glucosaminides
Enzyme Number (IUBMB): EC 3.2.1.50 

Genatlas biochemistry entry for NAGLU:
acetyl-glucosaminidase,alpha-N,77/82kDa,lysosomal,acting on heparan sulfate,catalyzing the fifth
step of degradation of glycosaminoglycans (mucopolysaccharides)

15 MGI mutant phenotypes (inferred from 1 allele(MGI details for Naglu):

behavior/neurologicalcellularcraniofacialgrowth/sizehearing/vestibular/ear
hematopoietic systemimmune systemlife span-post-weaning/agingliver/biliary systemnervous system
pigmentationrenal/urinary systemskeletonskin/coat/nailsvision/eye

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004561 alpha-N-acetylglucosaminidase activity TAS8650226
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA--
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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for  NAGLU  (Your Favorite Gene powered by Ingenuity) 
 Glycosaminoglycan Degradation
 Inositol Metabolism

   GeneDecks  NAGLU for the pathways selected above  
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1 Kegg Pathway  (Kegg details for NAGLU):
 hsa00531 Glycosaminoglycan degradation

   GeneDecks  NAGLU for the pathways selected above  
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5/16 Interacting proteins for NAGLU (ENSP000002259273) via UniProtKB, MINT, and/or STRING (see all 16 )
InteractantInteraction Details
GeneCardExternal ID(s)
SGSHENSP000003146063STRING (score=.921)
GUSBENSP000003027283STRING (score=.877)
CTSDENSP000002366713STRING (score=.868)
NAGAENSP000003553493STRING (score=.8)
B2MENSP000003408583STRING (score=.794)
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3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007399 nervous system development TAS8650226
GO:0008152 metabolic process IEA--
GO:0030203 glycosaminoglycan metabolic process IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Compounds for NAGLU available from Tocris Bioscience
CompoundAction CAS number
(Z)-PugnacO-GlcNAcase and beta-hexosaminidase inhibitor[132489-69-1]
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10/61 Novoseek chemical compound relationships for NAGLU gene (see all 61 )
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
vra-glcnac 89.18 1 1610104 (1)
cadmium 61.51 119 2403983 (5), 1463395 (4), 9037804 (4), 1587629 (4) (see all 35)
heparan sulfate 53.46 19 10588735 (2), 10094189 (1), 11136549 (1), 11578848 (1) (see all 14)
uric acid 43.33 28 18063857 (5), 11847525 (3), 15626645 (3), 7768579 (2) (see all 12)
mercury 41.27 20 14653309 (4), 7753757 (3), 18684440 (2), 15130443 (2) (see all 9)
lead 40.82 41 8141178 (4), 17497640 (4), 9037804 (3), 2391405 (3) (see all 14)
inulin 39.65 5 1988713 (1), 8675159 (1), 15769882 (1), 1583405 (1) (see all 5)
sodium 39.62 29 11847525 (2), 1678405 (2), 9002297 (2), 15565439 (1) (see all 21)
malondialdehyde 36.15 20 15565439 (3), 14665375 (2), 16538044 (2), 17541572 (1) (see all 7)
1,3-dichloropropene 34.95 4 8243412 (2)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (NAGLU)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (NAGLU)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000263

              Sigma-Aldrich siRNA and siRNA Panels for NAGLU  
                     Sigma-Aldrich shRNA for NAGLU  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_000263  

REFSEQ mRNAs for NAGLU gene: 

NM_000263.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000263  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000263
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000263
                                 untagged cDNA clone in CMV expression vector: NM_000263 

Additional cDNA sequence: 

BC053991.1 CR623854.1 L78464.1 U40846.1 U43573.1 

11 DOTS entries:

DT.120973669  DT.413876  DT.100749425  DT.97817493  DT.75184455  DT.100749424  DT.100749426  DT.120973622 
DT.120973645  DT.120973709  DT.95368263 

24/163 AceView cDNA sequences (see all 163 ):

BM710066 BQ012348 BM773017 BF346260 AU279934 NM_000263 CR623854 L78464 
AW205580 BF435029 BM752987 BM716556 BM746456 AU118592 BQ893829 CB268477 
BQ012843 BC053991 U43573 BM711369 AI973061 BM772104 AI417417 BM745799 

highest scoring ESTs for NAGLU:

U43573 BQ683563 BQ935423 CB153101 AA613718 AB209530 AI299657 AI758095 BM989126 T98509 

Unigene Cluster for NAGLU:

N-acetylglucosaminidase, alpha-
Hs.50727  [show with all ESTs]
Unigene Representative Sequence: NM_000263


GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for NAGLU

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1:                                                            
SP2:                                                            
SP3:                                            -               

About this scheme

ECgene alternative splicing isoforms for NAGLU

2 Ensembl transcripts including schematic representations:
ENST00000377405  ENST00000225927  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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NAGLU expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for NAGLU

1 / 2 / 3

3 probe-sets matching NAGLU gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
41596_s_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U43573 0.80 0.80 0.80 1

204360_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000263 0.40 0.67 0.55 1

204360_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  NAGLU for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GCTGAGCTGG

SOURCE GeneReport for Unigene cluster: Hs.50727

Expression variation in blood from EXPOLDB for NAGLU

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802
Tissue specificity: Liver, ovary, peripheral blood leukocytes, testis, prostrate, spleen, colon,
lung, placenta and kidney

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for NAGLU gene from 5/13 species (see all 13 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
NAGLU1   -- N-acetylglucosaminidase, alpha- 87.02(n)
85.85(a)
490965  XM_548088.2  XP_548088.2 
chimpanzee
(Pan troglodytes)
NAGLU1   -- N-acetylglucosaminidase, alpha- 99.69(n)
99.87(a)
468265  XM_523654.2  XP_523654.2 
cow
(Bos taurus)
NAGLU1   -- alpha-N-acetylglucosaminidase 85.66(n)
86.06(a)
789125  XM_001255546.1  XP_001255547.1 
mouse
(Mus musculus)
Naglu1, 5 115
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)1, 5 83.76(n)1
83.13(a)1
274191  NM_013792.11  NP_038820.11 
 AF0032555  AF3632425  (see all 35)
chicken
(Gallus gallus)
NAGLU1   -- N-acetylglucosaminidase, alpha- (Sanfilippo disease more 69.06(n)
65.91(a)
771195  XM_001234487.1  XP_001234488.1 
About this table        Species with no ortholog for NAGLU

ENSEMBL Gene Tree for NAGLU
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/61 NCBI SNPs in NAGLU are shown (see all 61 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 29)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 17 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs863121,2
A,C,F,H37949759(+) ACCCCG/CGCTGG 1 G/R mis113Minor allele frequency- C:0.25MN EU EA WA NA 1232
rs10481781,2
C,F37949945(+) CCTCCA/CCCACC 1 -- ut31 ese31Minor allele frequency- C:0.06MN 184
rs98998231,2
F,H37939605(+) TGGCAT/CTTAGA 1 -- ng514Minor allele frequency- C:0.02EU EA WA 418
--
rs6833441,2
A,C37950276(+) accacA/Gccagg 1 -- ng310--------
--
rs47930991,2
A,C37939566(-) TTTCTA/GCTGAA 1 -- ng510--------
--
rs47930901,2
C37939868(-) tgtctC/Tagtct 1 -- ng510--------
--
rs10481831,2
F37949948(+) CCACCA/CCCACC 1 -- ut31 ese31Minor allele frequency- C:0.03MN 93
rs6594971,2
C,F,H37942981(+) TACTCC/TTTCGT 1 S/S syn19Minor allele frequency- T:0.01EA NA MN EU WA 766
rs6305391,2
C,F,H37946870(+) TACTTT/CATAGT 1 -- int15Minor allele frequency- C:0.02MN EU EA WA 602
rs20710461,2
C,F,H37943139(+) CCACCC/GTAGGT 1 -- int15Minor allele frequency- G:0.24EA EU WA 1864
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HapMap Linkage Disequilibrium images for NAGLU (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 609701   disorders: 252920  

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802

  • Defects in NAGLU are the cause of mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]; also
    known as Sanfilippo syndrome B. MPS3B is a form of mucopolysaccharidosis type 3, an autosomal
    recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is
    characterized by severe central nervous system degeneration, but only mild somatic disease. Onset
    of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs
    in most patients between 6 and 10 years of age, and death occurs typically during the second or
    third decade of life
  • 10/93 Novoseek disease relationships for NAGLU gene (see all 93 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    sanfilippos syndrome 89.25 24 10588735 (3), 9443878 (2), 19399896 (2), 9443875 (1) (see all 17)
    mps iii b 86.02 3 11136549 (1), 16401642 (1), 19399896 (1)
    mucopolysaccharidosis 77.71 20 11068184 (2), 9443875 (1), 10094189 (1), 11237686 (1) (see all 14)
    microalbuminuria 74.72 44 9612904 (4), 15330557 (4), 12368574 (4), 2150050 (2) (see all 27)
    proteinuria 74.40 68 12401843 (6), 15503426 (4), 15714179 (4), 12900807 (4) (see all 37)
    albuminuria 72.44 19 1837508 (2), 8998811 (2), 1533771 (2), 9861409 (2) (see all 14)
    renal disease 72.38 56 1962647 (4), 8739282 (3), 2342652 (3), 2150050 (2) (see all 40)
    diabetic nephropathies 68.80 33 1350771 (5), 1685160 (2), 7669872 (2), 9436372 (2) (see all 18)
    mps iiia 65.06 1 11793481 (1)
    toxicity renal 61.17 2 9061418 (1), 17306939 (1)
    About this table

    Human Gene Mutation Database: NAGLU

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/553 PubMed articles for NAGLU gene (see all 553 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 4669 HGNC: 7632 AceView: NAGLU Ensembl:ENSG00000108784 euGenes: HUgn4669
    ECgene: NAGLU H-InvDB: NAGLU
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=NAGLU
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for NAGLU:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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