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NAGA Gene

protein-coding   GIFtS: 62

GC22M040784
N-acetylgalactosaminidase, 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
D22S674 1, 2
EC 3.2.1.49 3
GALB 2
alpha-N-acetylgalactosaminidase 2
Descriptions
Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) 2
Alpha-galactosidase B 3
N-acetylgalactosaminidase, alpha- 2
External Ids
HGNC: 76311
Entrez Gene: 46682
UniProtKB: P170503
Ensembl: ENSG000001989517
Search outside databases for aliases for NAGA gene

Previous GC identifers: GC22M039068 GC22M040697 GC22M040778

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for NAGA:
NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves
alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified
as the cause of Schindler disease types I and II (type II also known as Kanzaki disease).
[provided by RefSeq]

Gene Wiki entry for NAGA
(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 NAGA gene  

Entrez Gene cytogenetic band: 22q13-qter|22q11   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13-qter

NAGA 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 22         GeneLoc Exon Structure

GeneLoc location for GC22M040784:     (about GC identifiers)

Start:
40,784,331 bp from pter
End:
40,796,792 bp from pter
Size:
12,462 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000022.9  NT_011520.11  
(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: NAGAB_HUMAN, P17050 (See protein sequence)
Recommended Name: Alpha-N-acetylgalactosaminidase precursor  
Size: 411 amino acids; 46565 Da
Subcellular location: Lysosome
Miscellaneous: Alpha-galactosidase B was first found to be an isoenzyme of alpha-galactosidases,
but apparently it differs from alpha-galactosidase A in substrate specificity and is
alpha-N-acetylgalactosaminidase
Sequence caution: Sequence=AAA59902.1; Type=Frameshift; Positions=320;

REFSEQ proteins: NP_000253.1  

ENSEMBL proteins: 
ENSP00000384603 ENSP00000385283 ENSP00000355349 ENSP00000379680 


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 (NAGA)
Human Recombinant Proteins from Abnova (NAGA)
              OriGene Purified Recombinant Human Protein: NAGA 

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

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

Assays for NAGA: 
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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4 InterPro domains/families:
 IPR013785 Aldolase_TIM
 IPR002241 Glyco_hydro_27
 IPR000111 Glyco_hydro_GHD
 IPR013780 Glyco_hydro_13_b


   GeneDecks  NAGA for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P17050

ProtoNet protein and cluster: P17050

1 Blocks protein family: IPB002241 Glycosyl hydrolase family 27 signature

UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050
Similarity: Belongs to the glycosyl hydrolase 27 family

(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 (NAGA)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000262

              Applied Biosystems Silencer® siRNAs for NAGA

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

Clones:Invitrogen Clones for NAGA
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000262
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000262
                                 untagged cDNA clone in CMV expression vector: NM_000262 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000262

UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050
Catalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in
N-acetyl-alpha-D-galactosaminides
Enzyme Number (IUBMB): EC 3.2.1.49 

Genatlas biochemistry entry for NAGA:
acetyl-galactosaminidase,alpha-N-,lyposomal,catalyzing the degradation of
alpha-N-acetylgalactosaminyl-containing glycoconjugates

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

GO IDQualified GO termEvidencePubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA--
GO:0008456 alpha-N-acetylgalactosaminidase activity TAS2174888
GO:0043169 cation binding IEA--
About this table

(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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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for  NAGA  (Your Favorite Gene powered by Ingenuity) (see all 7
 Sphingolipid Metabolism
 Glycosaminoglycan Degradation
 Aminosugars Metabolism
 Glycerolipid Metabolism
 Galactose Metabolism

   GeneDecks  NAGA for the pathways selected above  
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1 Kegg Pathway  (Kegg details for NAGA):
 hsa00603 Glycosphingolipid biosynthesis - globo series

   GeneDecks  NAGA for the pathways selected above  
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5/8 Interacting proteins for NAGA (ENSP000003553493) via UniProtKB, MINT, and/or STRING (see all 8 )
InteractantInteraction Details
GeneCardExternal ID(s)
HEXAENSP000002680973STRING (score=.96)
B3GALNT1ENSP000003234793STRING (score=.9)
B3GALT5ENSP000003699923STRING (score=.899)
NAGLUENSP000002259273STRING (score=.8)
GCENSP000002739513STRING (score=.739)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005975 carbohydrate metabolic process IEA--
GO:0008152 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

Browse Tocris compounds for NAGA
6 Novoseek chemical compound relationships for NAGA gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
gal(beta1-3)galnac 62.35 1 9653936 (1)
periodate 38.35 1 9247192 (1)
n-acetylglucosamine 34.24 1 17455791 (1)
glycolipid 27.29 2 1418679 (1), 9741689 (1)
atp 0.00 1 1749310 (1)
glucose 0.00 1 10456768 (1)
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 (NAGA)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000262

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

Applied Biosystems Silencer® siRNAs: 

NM_000262  

REFSEQ mRNAs for NAGA gene: 

NM_000262.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000262  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000262
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000262
                                 untagged cDNA clone in CMV expression vector: NM_000262 

Additional cDNA sequence: 

BC000095.2 CR456527.1 CR591632.1 CR592922.1 CR595327.1 CR595848.1 CR596145.1 CR599558.1 
CR601288.1 CR601521.1 CR610763.1 CR612931.1 CR618231.1 CR620776.1 CR621618.1 CR622743.1 
CR623556.1 M29276.1 M38083.1 M62783.1 

16 DOTS entries:

DT.100823590  DT.455140  DT.100823595  DT.100823594  DT.95107270  DT.100698611  DT.95107235  DT.100823593 
DT.100643645  DT.100696225  DT.100696639  DT.100712149  DT.100719562  DT.100823598  DT.100777208  DT.95107273 

24/336 AceView cDNA sequences (see all 336 ):

AA303896 AL045023 CR599558 BI769830 CR595327 BC000095 BX367373 BU170376 
BX374419 CR456527 BM714265 CR596145 M38083 F03932 BX326675 AW296535 
BQ645779 CB529326 CR591632 CA748937 CR623556 BM676689 CR620776 CR622743 

highest scoring ESTs for NAGA:

AW382779 BC000095 BE279616 BE386881 BE409953 BE784116 BF968581 BG482168 BG829868 BI193237 

Unigene Cluster for NAGA:

N-acetylgalactosaminidase, alpha-
Hs.75372  [show with all ESTs]
Unigene Representative Sequence: NM_000262


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for NAGA

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1:                                                                                    
SP2:                    -                                                               
SP3:                                                                                    
SP4:                                      -                                             

About this scheme

ECgene alternative splicing isoforms for NAGA

4 Ensembl transcripts including schematic representations:
ENST00000402937  ENST00000403363  ENST00000361920  ENST00000396398  
(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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NAGA expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for NAGA

1 / 2 / 3

6 probe-sets matching NAGA gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

36607_at2, 3 U95-A 1 0.94 1.00 1.00 1.00 Z99716 0.20 0.50 0.38 1

202943_s_at2, 3 U133-A 1 1.00 1.00 -- -- M38083 0.80 1.00 0.91 1

202944_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000262 0.60 1.00 0.82 1

202943_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

202944_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1555041_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TGATTGGCTT

SOURCE GeneReport for Unigene cluster: Hs.75372

Expression variation in blood from EXPOLDB for NAGA

(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 NAGA gene from 5/13 species (see all 13 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
NAGA1   -- N-acetylgalactosaminidase, alpha- 87.24(n)
84.63(a)
481226  XM_538347.2  XP_538347.2 
chimpanzee
(Pan troglodytes)
NAGA1   -- N-acetylgalactosaminidase, alpha- 99.59(n)
99.51(a)
470279  XM_525662.2  XP_525662.2 
cow
(Bos taurus)
NAGA1   -- N-acetylgalactosaminidase, alpha- 87.51(n)
85.64(a)
533357  NM_001046349.1  NP_001039814.1 
rat
(Rattus norvegicus)
Naga1   -- N-acetyl galactosaminidase, alpha 83.33(n)
82.76(a)
315165  NM_001012120.1  NP_001012120.1 
mouse
(Mus musculus)
Naga1, 5 15 (46.00 cM)5
N-acetyl galactosaminidase, alpha1, 5 81.83(n)1
82.64(a)1
179391  NM_008669.31  NP_032695.21 
 AF0794585  AJ2239665  (see all 14)
About this table        Species with no ortholog for NAGA

ENSEMBL Gene Tree for NAGA
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for NAGA gene
GLA2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/133 NCBI SNPs in NAGA are shown (see all 133 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 66)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 22 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs57585661,2
A,C,F,H40784300(+) TACACA/GTTGAT 1 -- ut314Minor allele frequency- G:0.32EU EA WA 418
rs1333751,2
A,C,F,H40796455(+) AGCTTC/GAGTTC 1 -- ut5114Minor allele frequency- N:0.00EA NA MN EU WA 1128
--
rs28594381,2
A,C,F,O40796926(+) GAGGCT/AGGCAT 1 -- ng313Minor allele frequency- A:0.27NA 138
rs10633921,2
A,C,F,H40784896(-) AAGTAT/CAGGGT 1 -- ut3117Minor allele frequency- C:0.49MN EU EA WA NA 1658
rs1333771,2
A,C40796896(+) CCCCAC/TTGGGC 1 -- ng310--------
rs22295471,2
C,F40786217(-) GGGACA/CTGTGA 1 -- ut31 ese34Minor allele frequency- C:0.03MN NA 194
rs1333761,2
A,C40796851(+) TGCCCC/TGCCCA 1 -- ng310--------
rs117032331,2
C,H40784533(+) GAAGGG/ATGAAG 1 -- ut31 ese34Minor allele frequency- A:0.00EU EA WA 418
rs170028321,2
F,H40786086(+) TGGCCG/ATGAGA 1 -- ut31 ese37Minor allele frequency- A:0.03NA EU EA WA 562
--
rs121656381,2
A40783906(+) ctgtcA/Gcccag 1 -- ng510--------
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HapMap Linkage Disequilibrium images for NAGA (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: 104170   disorders: 609241  609242  609241  

UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050

  • Defects in NAGA are the cause of Schindler disease [MIM:609241]. Schindler disease is a
    form of NAGA deficiency characterized by early onset neuroaxonal dystrophy and neurological signs
    (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is
    typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or
    Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or
    Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III)
    characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the
    increased urinary excretion of glycopeptides and oligosaccharides containing
    alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive
  • Defects in NAGA are the cause of Kanzaki disease [MIM:609242]; also known as NAGA
    deficiency type II or Schindler disease type II. Kanzaki disease is an autosomal recessive
    disorder characterized by late onset, angiokeratoma corporis diffusum and mild intellectual
    impairment
  • 10/16 Novoseek disease relationships for NAGA gene (see all 16 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuroaxonal dystrophies 91.96 5 8466216 (1), 2122121 (1), 11313741 (1), 1907616 (1) (see all 5)
    neuroaxonal dystrophy, infantile 89.91 4 1907616 (2), 2122121 (1)
    angiokeratoma 82.50 3 7707696 (1), 1907616 (1)
    fucosidosis 82.19 4 10571005 (2), 2208741 (1), 2122119 (1)
    fabry disease 80.34 7 11251574 (2), 2208741 (2), 2160280 (1), 8040340 (1) (see all 5)
    lysosomal storage diseases 69.45 3 11251574 (1), 7707696 (1), 2208741 (1)
    sialidosis 67.39 2 2208741 (1), 2122119 (1)
    enzyme deficiency 57.99 1 8466216 (1)
    deficiency diseases 57.20 1 12005440 (1)
    nephropathy iga 50.67 1 18925530 (1)
    About this table

    Genatlas disease: NAGA
    angiokeratoma corporis diffusum with glycopeptiduria,Schindler,Seitelberger disease,neuroaxonal
    dystrophy,infantile and adult types

    Human Gene Mutation Database: NAGA

    (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

    10/113 PubMed articles for NAGA gene (see all 113 ):
    (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: 4668 HGNC: 7631 AceView: NAGA Ensembl:ENSG00000198951 euGenes: HUgn4668
    ECgene: NAGA H-InvDB: NAGA
    (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=NAGA
    (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 NAGA:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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