XRCC5 Gene
protein-coding GIFtS : 69
GC02P216680
X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (Previous names: X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for XRCC5
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CTC85 3 CTCBF 3 EC 3.6.1.- 3 FLJ39089 2 G22P2 3 KARP-1 1 , 2 KARP1 2 KU80 1 , 2 KUB2 1 , 2 Ku80 3 Ku86 1 , 2 , 3 NFIV 2 TLAA 3
Descriptions 86 kDa subunit of Ku antigen 3 ATP-dependent DNA helicase II 2 ATP-dependent DNA helicase II 80 kDa subunit 3 CTC box-binding factor 85 kDa subunit 3 DNA repair protein XRCC5 2 , 3 Ku autoantigen, 80kDa 2 Ku86 autoantigen related protein 1 2 Lupus Ku autoantigen protein p86 3 Nuclear factor IV 3 Thyroid-lupus autoantigen 3 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 2 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) 1 , 2 X-ray repair, complementing defective, repair in Chinese hamster 2
Search outside databases for aliases for XRCC5 genePrevious GC identifers: GC02P215135 GC02P215696 GC02P216938 GC02P217174 GC02P217152 GC02P216797
Summaries for XRCC5 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for XRCC5 : The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein whichis also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-bindingcomponent of the DNA-dependent protein kinase, and it functions together with the DNA ligaseIV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and thecompletion of V(D)J recombination events. This gene functionally complements Chinese hamsterxrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)Jrecombination. A rare microsatellite polymorphism in this gene is associated with cancer inpatients of varying radiosensitivity. [provided by RefSeq] UniProtKB/Swiss-Prot: KU86_HUMAN, P13010 Function : Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosometranslocation. The DNA helicase II complex binds preferentially to fork-like ends ofdouble-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding toDNA may be mediated by p70. Involved in DNA nonhomologous end joining (NHEJ) required fordouble-strand break repair and V(D)J recombination. The Ku p70/p86 dimer acts as regulatorysubunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of thecatalytic subunit PRKDC to DNA by 100-fold. The Ku p70/p86 dimer is probably involved instabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNAends is required for the NHEJ ligation step. In association with NARG1, the Ku p70/p86 dimer bindsto the osteocalcin promoter and activates osteocalcin expression
Gene Wiki entry for XRCC5 (ATP-dependent_DNA_helicase_2_subunit_2)
Genomic Location for XRCC5
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the XRCC5 gene Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q35 XRCC5 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 2 GeneLoc Exon Structure
GeneLoc location for GC02P216680:
(about GC identifiers )
Start:
216,675,717 bp from pter
End:
216,779,248 bp from pter
Size:
103,532 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.10 NT_005403.16 Proteins for XRCC5
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: KU86_HUMAN, P13010 (See
protein sequence )Recommended Name: ATP-dependent DNA helicase 2 subunit 2 Size : 732 amino acids; 82705 Da
Subunit : Heterodimer of a 70 kDa and a 80 kDa subunit. The dimer associates in a DNA-dependentmanner with PRKDC to form the DNA-dependent protein kinase complex DNA-PK, and with the LIG4-XRCC4complex. The dimer also associates with NARG1, and this complex displays DNA binding activitytowards the osteocalcin FGF response element (OCFRE). In addition, the 80 kDa subunit binds to theosteoblast-specific transcription factors MSX2 and RUNX2. Interacts with ELF3. May interact withAPLF
Subcellular location : Nucleus
Developmental stage : Expression increases during promyelocyte differentiation
PDB structures from and Proteopedia : 1JEQ (3D)
 1JEY (3D)
 1Q2Z (3D)
 1RW2 (3D)
 
Secondary accessions : A8K3X5 Q0Z7V0 Q4VBQ5 Q53HH7 Q7M4N0 Q9UCQ0 Q9UCQ1
Post-translational modifications:
Phosphorylated on serine residues. Phosphorylation by PRKDC may enhance helicase activity1
Sumoylated1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_066964.1 ENSEMBL proteins: ENSP00000295663 ENSP00000329528 ENSP00000375978 ENSP00000375977 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: XRCC5 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for XRCC5: Assays for XRCC5:
Protein
Domains/ Families for XRCC5(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P13010 ProtoNet protein and cluster: P13010
1 Blocks protein family : IPB005160 Ku70/Ku80 C-terminal arm UniProtKB/Swiss-Prot: KU86_HUMAN, P13010 Domain : The EEXXXDDL motif is required for the interaction with catalytic subunit PRKDC and itsrecruitment to sites of DNA damage Similarity : Belongs to the ku80 familySimilarity : Contains 1 Ku domain
Gene Function for XRCC5
(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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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021141 Applied Biosystems Silencer ® siRNAs for XRCC5 Sigma-Aldrich siRNA and siRNA Panels for XRCC5 Sigma-Aldrich shRNA Panels and shRNA for XRCC5 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_021141                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021141                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_021141  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021141 UniProtKB/Swiss-Prot: KU86_HUMAN, P13010 Function : Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosometranslocation. The DNA helicase II complex binds preferentially to fork-like ends ofdouble-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding toDNA may be mediated by p70. Involved in DNA nonhomologous end joining (NHEJ) required fordouble-strand break repair and V(D)J recombination. The Ku p70/p86 dimer acts as regulatorysubunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of thecatalytic subunit PRKDC to DNA by 100-fold. The Ku p70/p86 dimer is probably involved instabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNAends is required for the NHEJ ligation step. In association with NARG1, the Ku p70/p86 dimer bindsto the osteocalcin promoter and activates osteocalcin expression Induction : In osteoblasts, by FGF2Enzyme Number (IUBMB): EC 3.6.1.-
Genatlas biochemistry entry for XRCC5 :repair X-ray defect,complementing defect in CHO cells,5,involved in double-strand DNA breakrejoining
15 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Xrcc5) :5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
):
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Pathways & Interactions for XRCC5
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for XRCC5 5/70 Interacting proteins for XRCC5 (P13010 1 , 2 ENSP00000329528 3 ) via UniProtKB, MINT, and/or STRING (see all 70
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for XRCC5 (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 Tocris compounds for XRCC5 5 Novoseek chemical compound relationships for XRCC5 gene
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Transcripts for XRCC5(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
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OriGene ,
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021141 Sigma-Aldrich siRNA and siRNA Panels for XRCC5 Sigma-Aldrich shRNA Panels and shRNA for XRCC5 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_021141
REFSEQ mRNAs for XRCC5 gene: NM_021141.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_021141
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021141                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021141                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_021141  
Additional cDNA sequence: AK023296.1 AK026166.1 AK096408.1 AK222603.1 AK290740.1 BC019027.2 BC095442.1 BX647578.1 CR599959.1 CR615055.1 CR625379.1 J04977.1 M30938.1 X57500.1
24/53 DOTS entries (see all 53
): DT.95145993 DT.97800488 DT.95171313 DT.100691454 DT.100691471 DT.100869880 DT.100691449 DT.95171318 DT.100691468 DT.92466638 DT.95171296 DT.100691456 DT.453635 DT.40225001 DT.100691470 DT.92466637 DT.97793901 DT.121019322 DT.95171297 DT.95171305 DT.425181 DT.92466640 DT.92466647 DT.92466665
24/1155 AceView cDNA sequences (see all 1155
):AA167075 AU131795 BE890000 BC008604 AW249915 AI568805 AU155518 BQ642849 AU132244 AX747073 CA419334 CB131487 CB216035 AI168677 AI380119 AA333693 BM672147 AA577675 AU280621 CF265072 AW291087 BQ220595 AU123477 CA417688
highest scoring ESTs for XRCC5 :J04977 M30938 AA079672 AA102740 AA113220 AA113390 AA126630 AA127009 AA132890 AA137248
Unigene Cluster for XRCC5: X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) Hs.388739 [show with all ESTs ] Unigene Representative Sequence: BX647578 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC5 (see all 8
) ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ SP1 :             -       -                                   SP2 :                                                     SP3 :           -   -       -                                   SP4 :                   -                                   SP5 :                                             -   -      
ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 SP1 :                       SP2 :                       SP3 :                       SP4 :                       SP5 :                      
About this scheme ECgene alternative splicing isoforms for XRCC5 4 Ensembl transcripts including schematic representations : ENST00000295663
ENST00000328063
ENST00000392133
ENST00000392132
Expression for XRCC5
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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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XRCC5 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for XRCC5 1 / 2 / 3
8 probe-sets matching XRCC5 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TAACATTAAASOURCE GeneReport for Unigene cluster: Hs.388739 Expression variation in blood from EXPOLDB for XRCC5
Orthologs for XRCC5
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for XRCC5 gene from 5/16 species (see all 16
)
About this table Species with no ortholog for XRCC5 ENSEMBL Gene Tree for XRCC5 Paralogs for XRCC5 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for XRCC5 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for XRCC5 (up to first 250kb)
Disorders & Mutations for XRCC5
(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 .)
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OMIM: 194364 UniProtKB/Swiss-Prot: KU86_HUMAN, P13010
Individuals with systemic lupus erythematosus (SLE) and related disorders produceextremely large amounts of autoantibodies to p70 and p86
10/23 Novoseek disease relationships for XRCC5 gene (see all 23
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia
54.44
4
9636207 (3)
werner syndrome
46.69
1
19372586 (1)
chromosomal aberrations
41.91
4
12460917 (3), 15492246 (1)
myeloid leukemia
27.24
2
12019155 (1), 12702565 (1)
colon carcinoma
24.96
3
11152960 (2), 15208076 (1)
cancer
22.32
11
17982634 (4), 15492246 (1), 15827325 (1), 12460917 (1) (see all 8 )
tumors
22.04
38
15254745 (3), 12902903 (3), 18546291 (3), 12216085 (2) (see all 15 )
nsclc
17.93
3
17289874 (2)
colon cancer
14.14
2
11731412 (1), 11792868 (1)
carcinoma squamous cell
13.04
2
14556663 (1), 17289874 (1)
About this table Human Gene Mutation Database : XRCC5 Genetic Association Database: XRCC5 Human Genome Epidemiology Navigator: XRCC5 (20 documents)
Medical News for XRCC5 (Possibly Related Articles in
Doctor's Guide )
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Publications for XRCC5 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/283 PubMed articles for XRCC5 gene (see all 283
): KARP-1: a novel leucine zipper protein expressed from the Ku86 autoantigen locus is implicated in the control of DNA-dependent protein kinase activity. (PubMed id 9214634) 1, 2, 3 Myung K....Hendrickson E.A. (1997) KARP-1 is induced by DNA damage in a p53- and ataxia telangiectasia mutated-dependent fashion. (PubMed id 9636207) 1, 2, 3 Myung K.... Hendrickson E.A. (1998) Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: subunits with homology to Ku antigen. (PubMed id 7882982) 1, 3, 4 Genersch E....Poeschl E. (1995) Positive and negative modulation of the transcriptional activity of the ETS factor ESE-1 through interaction with p300, CREB-binding protein, and Ku 70/86. (PubMed id 15075319) 1, 3, 4 Wang H.... Oettgen P. (2004) DNA-dependent protein kinase phosphorylation sites in Ku 70/80 heterodimer. (PubMed id 10026262) 1, 3, 4 Chan D.W.... Lees-Miller S.P. (1999) Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. (PubMed id 15758953) 1, 3, 4 Falck J.... Jackson S.P. (2005) Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility. (PubMed id 12750264) 1, 3, 6 Fu Y.P....Shen C.Y. (2003) Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306) 1, 3, 4 Willis D.M.... Towler D.A. (2002) Genotyping of patients with sporadic and radiation-associated meningiomas. (PubMed id 15824172) 3, 6 Sadetzki S....Friedman E. (2005) DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers. (PubMed id 15680411) 3, 6 Wilding C.S....Tawn E.J. (2005)
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Genome Databases showing XRCC5
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing XRCC5
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Specialized Databases showing XRCC5 (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
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-- Services for XRCC5 (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
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Products for XRCC5:
Antibodies & Assays for XRCC5   (Ku80)
Search Tocris compounds for XRCC5
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GeneCards Homepage - Last full update: 2 Jul 2009
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