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B4GALT6 Gene

protein-coding   GIFtS: 54

GC18M027457
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
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
B4Gal-T6 2
Beta4Gal-T6 3
EC 2.4.1.- 3
b4Gal-T6 3
beta4Gal-T6 2
beta4GalT-VI 1, 2
Descriptions
Beta-1,4-GalTase 6 3
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6 3
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase,
polypeptide 6 2
UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase 2
UDP-galactose:beta-N-acetylglucosamine
beta-1,4-galactosyltransferase 6 3
beta-1,4-galactosyltransferase 6 2
External Ids
HGNC: 9291
Entrez Gene: 93312
UniProtKB: Q9UBX83
Ensembl: ENSG000001182767
Search outside databases for aliases for B4GALT6 gene

Previous GC identifers: GC18M029226 GC18M029022 GC18M027455

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for B4GALT6:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II
membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate
UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc,
Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different
glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal
hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains
uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four
groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and
beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for
glycolipid biosynthesis. [provided by RefSeq]

UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
Function: Required for the biosynthesis of glycosphingolipids

(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)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the B4GALT6 gene  

Entrez Gene cytogenetic band: 18q11   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q11

B4GALT6 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 18         GeneLoc Exon Structure

GeneLoc location for GC18M027457:     (about GC identifiers)

Start:
27,457,131 bp from pter
End:
27,518,684 bp from pter
Size:
61,554 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000018.8  NT_010966.13  
(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: B4GT6_HUMAN, Q9UBX8 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 6  
Size: 382 amino acids; 44914 Da
Cofactor: Manganese or magnesium or calcium (By similarity)
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.
Note=Trans cisternae of Golgi stack
Secondary accessions: O60514

REFSEQ proteins: NP_004766.2  

ENSEMBL proteins: 
ENSP00000372613 ENSP00000306459 ENSP00000237019 


Human Recombinant Proteins 
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Human Recombinant Proteins from Abnova (B4GALT6)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005794 Golgi apparatus IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for B4GALT6: 
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for B4GALT6

Assays for B4GALT6: 
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:
 IPR003859 Galactosyl_T_2


   GeneDecks  B4GALT6 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9UBX8

ProtoNet protein and cluster: Q9UBX8

1 Blocks protein family: IPB003859 Metazoa galactosyltransferase

UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
Similarity: Belongs to the glycosyltransferase 7 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 (B4GALT6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (B4GALT6)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004775

              Applied Biosystems Silencer® siRNAs for B4GALT6

              Sigma-Aldrich siRNA for B4GALT6  
                     Sigma-Aldrich shRNA for B4GALT6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for B4GALT6
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004775
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004775
                                 untagged cDNA clone in CMV expression vector: NM_004775 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_004775

UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
Function: Required for the biosynthesis of glycosphingolipids
Catalytic activity: UDP-galactose + glucosylceramide = UDP + lactosylceramide
Enzyme regulation: Inhibited by EDTA (By similarity)
Enzyme Number (IUBMB): EC 2.4.1.- 

Genatlas biochemistry entry for B4GALT6:
UDP galactose

1 MGI mutant phenotype (inferred from 1 allele(MGI details for B4galt6):

normal

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000287 magnesium ion binding IEA--
GO:0005509 calcium ion binding IEA--
GO:0008378 galactosyltransferase activity TAS9597550
GO:0016757 transferase activity, transferring glycosyl groups IEA--
GO:0030145 manganese ion 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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1 Invitrogen iPath™ Online BioAtlas - Pathway for B4GALT6 (Maps provided by GeneGo):
 Sphingolipid metabolism

   GeneDecks  B4GALT6 for the pathways selected above  
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for  B4GALT6  (Your Favorite Gene powered by Ingenuity) 
 Keratan Sulfate Biosynthesis
 N-Glycan Biosynthesis

   GeneDecks  B4GALT6 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for B4GALT6):
 hsa00600 Sphingolipid metabolism

   GeneDecks  B4GALT6 for the pathways selected above  
About GeneDecksing
UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
Pathway: Protein modification; protein glycosylation


5/25 Interacting proteins for B4GALT6 (ENSP000003064593) via UniProtKB, MINT, and/or STRING (see all 25 )

InteractantInteraction Details
GeneCardExternal ID(s)
B4GALNT1ENSP000003415623STRING (score=.907)
ANKRD18AENSP000003506073STRING (score=.899)
CHRNB2ENSP000003574613STRING (score=.899)
EIF2AK2ENSP000003684533STRING (score=.899)
GBAENSP000003573573STRING (score=.899)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005975 carbohydrate metabolic process IEA--
About this table
(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for B4GALT6
7 Novoseek chemical compound relationships for B4GALT6 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
lactosylceramide 96.33 27 10320813 (4), 8175761 (2), 15936020 (2), 8808768 (1) (see all 17)
laccer 96.11 29 8175761 (3), 18393821 (3), 16151023 (2), 18077097 (2) (see all 12)
glucosylceramide 91.40 15 7592537 (1), 8808768 (1), 11740154 (1), 8781979 (1) (see all 11)
glycosphingolipid 87.11 2 15611100 (1), 8175761 (1)
shiga toxin 82.84 3 15633106 (1)
ceramide 76.54 5 11740154 (1), 8781979 (1), 12232838 (1), 16100442 (1) (see all 5)
galactose 42.94 2 15633106 (1), 10320813 (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 (B4GALT6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (B4GALT6)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004775

              Sigma-Aldrich siRNA for B4GALT6  
                     Sigma-Aldrich shRNA for B4GALT6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_004775  

REFSEQ mRNAs for B4GALT6 gene: 

NM_004775.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_004775  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004775
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004775
                                 untagged cDNA clone in CMV expression vector: NM_004775 

Additional cDNA sequence: 

AB024742.2 AB209194.1 AF038664.1 AF069054.1 AF097159.1 AK314860.1 BC069620.1 BC069642.1 
BC074835.2 BC074884.2 

5 DOTS entries:

DT.75147548  DT.100672206  DT.95174538  DT.92418574  DT.95345331 

24/49 AceView cDNA sequences (see all 49 ):

F07007 BC074835 BC074884 AA599568 AB024742 BF001183 BE218836 Z40117 
BC069620 BF378154 AW451235 AF038664 AW451997 BM801139 BE222493 AF097159 
BE910162 BE222413 AF069054 AW452091 BG706662 CA391199 AL601725 AI190692 

highest scoring ESTs for B4GALT6:

AF038664 AI700862 AB024742 AF069054 AF097159 BC069620 BC069642 AA333373 AA599568 AA833757 

Unigene Cluster for B4GALT6:

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
Hs.591063  [show with all ESTs]
Unigene Representative Sequence: NM_004775


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT6

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

About this scheme

ECgene alternative splicing isoforms for B4GALT6

3 Ensembl transcripts including schematic representations:
ENST00000383131  ENST00000306851  ENST00000237019  
(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 )
About This Section

B4GALT6 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for B4GALT6

1 / 2 / 3

8 probe-sets matching B4GALT6 gene


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

36366_at2, 3 U95-A 1 1.00 1.00 0.95 0.39 AF038664 1.00 0.90 0.95 1
69862_at2, 3 U95-E 1 1.00 1.00 0.94 1.71 AI700862 0.80 1.00 0.91 1

235333_at2, 3 U133-B 1 1.00 1.00 -- -- BG503479 0.60 1.00 0.82 1

206233_at2, 3 U133-A 1 1.00 1.00 -- -- AF097159 0.80 0.88 0.84 1

206232_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004775 0.60 1.00 0.82 1

235333_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

206233_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

206232_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  B4GALT6 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.591063

Expression variation in blood from EXPOLDB for B4GALT6

UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
Tissue specificity: High expression in brain and adrenal gland, lower in liver, lung, colon and
peripheral white blood cells

(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 B4GALT6 gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
B4GALT61   -- UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 93.28(n)
97.91(a)
490499  XM_547621.2  XP_547621.2 
chimpanzee
(Pan troglodytes)
B4GALT61   -- UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 99.39(n)
99.48(a)
468512  XM_523901.2  XP_523901.2 
cow
(Bos taurus)
B4GALT61   -- UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 92.32(n)
97.91(a)
524460  XM_001249794.1  XP_001249795.1 
rat
(Rattus norvegicus)
B4galt61   -- UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, more 86.74(n)
93.98(a)
65196  NM_031740.1  NP_113928.1 
mouse
(Mus musculus)
B4galt61, 5 185
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, more1, 5 88.13(n)1
94.5(a)1
563861  NM_019737.11  NP_062711.11 
 AA5368035  AA8158985  (see all 23)
About this table        Species with no ortholog for B4GALT6

ENSEMBL Gene Tree for B4GALT6
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for B4GALT6 gene
B4GALT52  B4GALT72  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/281 NCBI SNPs in B4GALT6 are shown (see all 281 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 143)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 18 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs80977551,2
A,C,F,H27458096(+) CTTTTC/TTCAGA 1 -- ut317Minor allele frequency- N:0.01EA NA WA 508
rs17911611,2
C,F,H,O27458208(-) AATACA/GTGATG 1 -- ut31 ese38Minor allele frequency- G:0.47MN NA EU EA WA 726
rs129646171,2
C,F,H27457533(+) GACTTT/GAAAAA 1 -- ut31 ese311Minor allele frequency- G:0.06NA EU EA WA 980
rs414476471,2
C,F27459357(-) AGAAAC/TGGGAA 1 -- ut318Minor allele frequency- T:0.31EU EA WA 838
rs346831951,2
C,F27459589(+) TTCGAT/CTGGAG 1 V/I mis15Minor allele frequency- C:0.01NA EU EA WA 496
--
rs178031651,2
F27456949(+) ACTAGG/CAAATA 1 -- ut313Minor allele frequency- C:0.01NA 132
--
rs176613411,2
F27457383(+) AAAATG/TAACAT 1 -- ut314Minor allele frequency- N:0.00NA EA 210
rs17911831,2
A,C,F,H,O27492684(-) AGCAAG/AGATTT 1 -- int112Minor allele frequency- A:0.19NS NA EU EA WA 638
rs25953721,2
A,C,F,H,O27492355(-) TCCCTT/GTAGAT 1 -- int121Minor allele frequency- G:0.17NS EA NA EU WA 1524
rs16672761,2
A,C,F,H,O27468113(+) ACGGGG/AAAAGG 1 -- int14Minor allele frequency- A:0.33EA WA 1588
About this table

HapMap Linkage Disequilibrium images for B4GALT6 (up to first 250kb)

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

OMIM: 604017

1 PharmGKB disease relationship for B4GALT6 gene
Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
About this table

(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

10/35 PubMed articles for B4GALT6 gene (see all 35 ):
(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: 9331 HGNC: 929 AceView: B4GALT6 Ensembl:ENSG00000118276 euGenes: HUgn9331
ECgene: B4GALT6 H-InvDB: B4GALT6
(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
GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_441
(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 B4GALT6:
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 TaqMan ® Genotyping Assays
  Free SNP selection tool



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