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A4GALT Gene

protein-coding   GIFtS: 60

GC22M041412
alpha 1,4-galactosyltransferase
(Previous names: alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group) )
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
A14GALT 1, 2, 3
A4GALT1 2, 3
Alpha-1,4-N-acetylglucosaminyltransferase 3
Alpha-1,4-galactosyltransferase 3
Alpha4Gal-T1 3
EC 2.4.1.228 3
P1 2
PK 2, 5
alpha-1,4-N-acetylglucosaminyltransferase 2
alpha4Gal-T1 2
Descriptions
CD77 synthase 2, 3
Gb3 synthase 2, 3
Globotriaosylceramide synthase 2, 3
P blood group (P one antigen) 2
P(k) antigen synthase 2
P1/Pk synthase 2, 3
UDP-galactose:beta-D-galactosyl-beta1-R
4-alpha-D-galactosyltransferase 2, 3
alpha 1,4-galactosyltransferase 2
alpha 1,4-galactosyltransferase (globotriaosylceramide
synthase, P blood group) 1
lactosylceramide 4-alpha-galactosyltransferase 2
External Ids
HGNC: 181491
Entrez Gene: 539472
UniProtKB: Q9NPC43
Ensembl: ENSG000001282747
Search outside databases for aliases for A4GALT gene

Previous GC identifers: GC22M039690 GC22M041319

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for A4GALT:
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form
globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system.
The encoded protein, which is a type II membrane protein found in the Golgi, is also required for
the synthesis of the bacterial verotoxins receptor. [provided by RefSeq]

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
Function: Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the
transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of
the receptor for bacterial verotoxins

Gene Wiki entry for A4GALT

(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 A4GALT gene  

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

A4GALT 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 GC22M041412:     (about GC identifiers)

Start:
41,418,071 bp from pter
End:
41,446,820 bp from pter
Size:
28,750 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: A4GAT_HUMAN, Q9NPC4 (See protein sequence)
Recommended Name: Lactosylceramide 4-alpha-galactosyltransferase  
Size: 353 amino acids; 40499 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Probable)
Secondary accessions: Q9P1X5

REFSEQ proteins: NP_059132.1  

ENSEMBL proteins: 
ENSP00000384794 ENSP00000370678 ENSP00000370676 ENSP00000249005 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (CD77)
Human Recombinant Proteins from Abnova (A4GALT)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000139 Golgi membrane IEA--
GO:0005624 membrane fraction IDA10748143
GO:0005794 Golgi apparatus IEA--
GO:0005795 Golgi stack IEA--
GO:0016020 membrane IEA--
About this table

Antibodies for A4GALT: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for A4GALT
Browse R&D Systems for Antibodies
Antibodies from Abcam (CD77), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (A4GALT)
Novus Biologicals Antibody for A4GALT

Assays for A4GALT: 
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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2 InterPro domains/families:
 IPR007652 Gb3_synth
 IPR007577 Glyco_trans_s_bd


   GeneDecks  A4GALT for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9NPC4

ProtoNet protein and cluster: Q9NPC4

1 Blocks protein family: IPB007652 Alpha 1,4-glycosyltransferase conserved region

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
Domain: The conserved DXD motif is involved in enzyme activity (By similarity)
Similarity: Belongs to the glycosyltransferase 32 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 (A4GALT)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (A4GALT)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_017436

              Applied Biosystems Silencer® siRNAs for A4GALT

              Sigma-Aldrich siRNA for A4GALT  
                     Sigma-Aldrich shRNA for A4GALT  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for A4GALT
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_017436
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_017436
                                 untagged cDNA clones in CMV expression vector (see all 2): BC017068 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_017436

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
Function: Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the
transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of
the receptor for bacterial verotoxins
Catalytic activity: UDP-galactose + beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide = UDP +
alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide
Enzyme Number (IUBMB): EC 2.4.1.228 

2 MGI mutant phenotypes (inferred from 1 allele(MGI details for A4galt):

homeostasis/metabolismlife span-post-weaning/aging

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

GO IDQualified GO termEvidencePubMed IDs
GO:0008378 galactosyltransferase activity IDA10747952
GO:0016757 transferase activity, transferring glycosyl groups IEA--
GO:0050512 lactosylceramide 4-alpha-galactosyltransferase activity 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.)
About This Section


1 Sigma-Aldrich "Your Favorite Gene" Pathway for  A4GALT  (Your Favorite Gene powered by Ingenuity) 
 Glycosphingolipid Biosynthesis - Globoseries

   GeneDecks  A4GALT for the pathways selected above  
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1 Kegg Pathway  (Kegg details for A4GALT):
 hsa00603 Glycosphingolipid biosynthesis - globo series

   GeneDecks  A4GALT for the pathways selected above  
About GeneDecksing
UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
Pathway: Protein modification; protein glycosylation


5/14 Interacting proteins for A4GALT (Q9NPC42 ENSP000003706783) via UniProtKB, MINT, and/or STRING (see all 14 )

InteractantInteraction Details
GeneCardExternal ID(s)
B3GALNT1ENSP000003234793STRING (score=.987)
STX1AENSP000002228123STRING (score=.936)
HEXAENSP000002680973STRING (score=.899)
STX2ENSP000003425543STRING (score=.89)
B4GALT6ENSP000003064593STRING (score=.873)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006688 glycosphingolipid biosynthetic process NAS10748143
GO:0007009 plasma membrane organization IDA10747952
GO:0008610 lipid biosynthetic 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 A4GALT
6 Novoseek chemical compound relationships for A4GALT gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
lactosylceramide 87.08 5 9988695 (1), 12232838 (1), 16100442 (1), 15633106 (1) (see all 5)
shiga toxin 82.54 3 15633106 (1)
verotoxins 79.24 3 8039905 (1)
glucosylceramide 70.47 2 9988695 (1), 15633106 (1)
ceramide 62.35 3 9988695 (1), 12232838 (1), 16100442 (1)
glycosphingolipid 58.20 1 10854428 (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 (A4GALT)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (A4GALT)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_017436

              Sigma-Aldrich siRNA for A4GALT  
                     Sigma-Aldrich shRNA for A4GALT  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_017436  

REFSEQ mRNAs for A4GALT gene: 

NM_017436.4   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_017436  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_017436
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_017436
                                 untagged cDNA clones in CMV expression vector (see all 2): BC017068 

Additional cDNA sequence: 

AB037883.1 AJ245581.1 AK074388.1 AK130208.1 AK312927.1 BC017068.2 BC055286.1 CR604491.1 

13 DOTS entries:

DT.442686  DT.100699121  DT.120628638  DT.100821222  DT.95272953  DT.95272956  DT.101959088  DT.120628635 
DT.120628647  DT.92424195  DT.99988912  DT.100821221  DT.120628618 

24/105 AceView cDNA sequences (see all 105 ):

BU944582 BF939428 AB037883 AJ245581 BU944049 AI401691 BE646115 NM_017436 
BU956377 BQ059688 CR604491 BQ061875 BF915976 BC017068 BI754786 AI970069 
BF914923 BE019172 CB152865 CF132207 BP352881 CK823292 AW575194 BM966881 

highest scoring ESTs for A4GALT:

AB037883 BC017068 BE890045 BG721380 BI084280 BM924907 BQ706071 BQ707951 BQ709200 BQ712615 

Unigene Cluster for A4GALT:

Alpha 1,4-galactosyltransferase
Hs.105956  [show with all ESTs]
Unigene Representative Sequence: BC055286


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for A4GALT

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d
SP1:        -     -     -                           
SP2:              -     -                           
SP3:              -     -                           
SP4:                    -                           
SP5:                                                

About this scheme

ECgene alternative splicing isoforms for A4GALT

4 Ensembl transcripts including schematic representations:
ENST00000401850  ENST00000381278  ENST00000381276  ENST00000249005  
(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

A4GALT expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for A4GALT

1 / 2 / 3

3 probe-sets matching A4GALT gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
56837_at2, 3 U95-B 2 1.00 0.97 1.00 1.00 AA769110 0.60 1.00 0.82 1

219488_at2, 3 U133-A 1 1.00 1.00 -- -- NM_017436 0.60 1.00 0.82 1

219488_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  A4GALT 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: AAAATGTACT

SOURCE GeneReport for Unigene cluster: Hs.105956

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
Tissue specificity: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and
placenta

(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 A4GALT gene from 5/7 species (see all 7 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
A4GALT1   -- alpha 1,4-galactosyltransferase 87.82(n)
86.4(a)
481222  XM_538343.2  XP_538343.2 
chimpanzee
(Pan troglodytes)
A4GALT1   -- alpha 1,4-galactosyltransferase 99.43(n)
99.43(a)
470230  NM_001009123.1  NP_001009123.1 
rat
(Rattus norvegicus)
A4galt1   -- alpha 1,4-galactosyltransferase 80.42(n)
81.09(a)
63888  NM_022240.2  NP_071576.1 
mouse
(Mus musculus)
A4galt1, 5 155
alpha 1,4-galactosyltransferase1, 5 80.65(n)1
78.45(a)1
2395591  NM_001004150.11  NP_001004150.11 
 AK1398335  AK1491865  (see all 12)
chicken
(Gallus gallus)
A4GALT1   -- alpha 1,4-galactosyltransferase (globotriaosylceramide more 66.57(n)
66.29(a)
418223  XM_416448.2  XP_416448.2 
About this table        Species with no ortholog for A4GALT

ENSEMBL Gene Tree for A4GALT
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for A4GALT gene
A4GNT2  

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

UniProtKB/Swiss-Prot: A4GAT_HUMAN, Q9NPC4
Polymorphism: Different combinations or absence of the P blood group system antigens define 5
different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the p
phenotype, which is rare and does not express any antigens. It is also known as null phenotype; p
individuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies are
clinically important because they can cause severe transfusion reactions and miscarriage


10/416 NCBI SNPs in A4GALT are shown (see all 416 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 147)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 22 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs1351061,2
A,C,F,H41418379(+) CAAAGC/TATCCT 1 -- ut3110Minor allele frequency- T:0.03EA NA MN NS EU WA 904
--
rs57513511,2
A,C,F,H41447542(+) cagctG/Catgac 1 -- ng316Minor allele frequency- C:0.32EU EA WA NS 444
rs57588981,2
A,C,F,H41447407(+) TCTCTT/GTGGAA 1 -- ng316Minor allele frequency- G:0.29EU EA WA NS 450
rs10530261,2
A,C,F,H41418205(-) GCTCTG/ACCCCT 1 -- ut317Minor allele frequency- A:0.18EA MN NS WA 2064
rs115411591,2
C,F,H41419793(-) CCATCA/GTGATC 1 M/V mis16Minor allele frequency- G:0.34EU EA WA NS 512
--
rs96079291,2
A,C,F41446981(+) GGCGGG/CTGCGG 1 -- ng312Minor allele frequency- C:0.38NS 74
rs81424451,2
A,C,F41417588(+) GTCTCG/ACCCTG 1 -- ng512Minor allele frequency- A:0.19NS 94
rs37471941,2
A,C,F41418493(+) AGCACC/TGGCCT 1 -- ut31 ese33Minor allele frequency- T:0.34EA NS 1580
--
rs57513501,2
A,C,F41447539(+) actcaG/Actgat 1 -- ng312Minor allele frequency- A:0.40NS 32
--
rs58455561,2
C,F41447319(+) TCACAG/-CATAT 1 -- ng312Minor allele frequency- -:0.18NS 32
About this table

HapMap Linkage Disequilibrium images for A4GALT (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: 607922   disorders: 111400  

1 Novoseek disease relationship for A4GALT gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
tumors 0.00 1 11745412 (1)
About this table

Blood Group Antigen Gene Mutation Database (BGMUT) Pk blood group system 
Human Gene Mutation Database: A4GALT

(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

10/33 PubMed articles for A4GALT gene (see all 33 ):
(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: 53947 HGNC: 18149 AceView: A4GALT Ensembl:ENSG00000128274 euGenes: HUgn53947
ECgene: A4GALT H-InvDB: A4GALT
(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/
SeattleSNPshttp://pga.gs.washington.edu/data/a4galt/
Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_428
(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 A4GALT:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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