The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variant... See more...

Aliases for XRCC4 Gene

Aliases for XRCC4 Gene

  • X-Ray Repair Cross Complementing 4 2 3 5
  • DNA Repair Protein XRCC4 2 3 4
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 4 2 3
  • X-Ray Repair, Complementing Defective, Repair In Chinese Hamster 2
  • X-Ray Repair Cross-Complementing Protein 4 4
  • SSMED 3
  • XRCC4 5

External Ids for XRCC4 Gene

Previous GeneCards Identifiers for XRCC4 Gene

  • GC05P081191
  • GC05P082600
  • GC05P082412
  • GC05P082457
  • GC05P082409
  • GC05P077581

Summaries for XRCC4 Gene

Entrez Gene Summary for XRCC4 Gene

  • The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

GeneCards Summary for XRCC4 Gene

XRCC4 (X-Ray Repair Cross Complementing 4) is a Protein Coding gene. Diseases associated with XRCC4 include Short Stature, Microcephaly, And Endocrine Dysfunction and Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome. Among its related pathways are HIV Life Cycle and Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include ligase activity and protein C-terminus binding.

UniProtKB/Swiss-Prot Summary for XRCC4 Gene

  • Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.

Gene Wiki entry for XRCC4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XRCC4 Gene

Genomics for XRCC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for XRCC4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J083076 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 259 -0.1 -97 3.6 BCLAF1 SP1 MYC IKZF1 ZNF600 ZNF580 POLR2A CEBPA ZBTB10 YY1 XRCC4 TMEM167A lnc-TMEM167A-4 ENSG00000249664 SCARNA18 ATP6AP1L
GH05J083095 Enhancer 1.1 Ensembl ENCODE 28.6 +20.2 20203 5 IKZF1 ZNF600 JUND ZNF580 ATF2 ZNF10 ZBTB10 REST BHLHE40 FEZF1 XRCC4 RPS23 ATP6AP1L SCARNA18 ENSG00000249664 HSALNG0043136 TMEM167A lnc-TMEM167A-4 VCAN
GH05J083084 Enhancer 0.9 Ensembl 27.4 +7.6 7603 0.2 CEBPA YY1 MXD4 FOXA1 KLF11 HOMEZ KMT2B THAP11 FOXA2 RXRA XRCC4 TMEM167A lnc-TMEM167A-4 HSALNG0043136 VCAN
GH05J083145 Enhancer 0.5 Ensembl ENCODE 33.7 +68.5 68501 1.5 PRDM6 PRDM1 XRCC4 RF00017-4316 piR-32023-191 TMEM167A VCAN
GH05J083156 Enhancer 0.4 FANTOM5 Ensembl 34.2 +78.9 78903 2.8 XRCC4 VCAN ENSG00000249664 TMEM167A RF00017-4316 piR-32023-191
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XRCC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XRCC4

Top Transcription factor binding sites by QIAGEN in the XRCC4 gene promoter:
  • AML1a
  • FOXO1
  • FOXO1a
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • STAT5B

Genomic Locations for XRCC4 Gene

Latest Assembly
chr5:83,077,498-83,370,333
(GRCh38/hg38)
Size:
292,836 bases
Orientation:
Plus strand

Previous Assembly
chr5:82,373,366-82,649,579
(GRCh37/hg19 by Entrez Gene)
Size:
276,214 bases
Orientation:
Plus strand

chr5:82,373,317-82,649,606
(GRCh37/hg19 by Ensembl)
Size:
276,290 bases
Orientation:
Plus strand

Genomic View for XRCC4 Gene

Genes around XRCC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XRCC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC4 Gene

Proteins for XRCC4 Gene

  • Protein details for XRCC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13426-XRCC4_HUMAN
    Recommended name:
    DNA repair protein XRCC4
    Protein Accession:
    Q13426
    Secondary Accessions:
    • A8K3X4
    • Q9BS72
    • Q9UP94

    Protein attributes for XRCC4 Gene

    Size:
    336 amino acids
    Molecular mass:
    38287 Da
    Quaternary structure:
    • Homodimer and homotetramer in solution. The homodimer associates with LIG4. The LIG4-XRCC4 complex associates in a DNA-dependent manner with the DNA-PK complex composed of PRKDC, XRCC6/Ku70 and XRCC5/Ku86 to form the core non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and PAXX. Interacts directly with PRKDC but not with the XRCC6/Ku70 and XRCC5/Ku86 dimer. Interacts with APTX and APLF. Forms a heterotetramer with IFFO1; the interaction involves LIG4-free XRCC4 and leads to the relocalization of IFFO1 to the sites of DNA damage (PubMed:31548606).

    Three dimensional structures from OCA and Proteopedia for XRCC4 Gene

    Alternative splice isoforms for XRCC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XRCC4 Gene

Post-translational modifications for XRCC4 Gene

  • Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2 promotes interaction with APTX.
  • Monoubiquitinated.
  • Sumoylation at Lys-210 is required for nuclear localization and recombination efficiency. Has no effect on ubiquitination.
  • Ubiquitination at Lys197
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for XRCC4 Gene

Domains & Families for XRCC4 Gene

Gene Families for XRCC4 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for XRCC4 Gene

Suggested Antigen Peptide Sequences for XRCC4 Gene

GenScript: Design optimal peptide antigens:
  • X-ray repair cross-complementing protein 4 (XRCC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13426

UniProtKB/Swiss-Prot:

XRCC4_HUMAN :
  • Belongs to the XRCC4 family.
Family:
  • Belongs to the XRCC4 family.
genes like me logo Genes that share domains with XRCC4: view

Function for XRCC4 Gene

Molecular function for XRCC4 Gene

UniProtKB/Swiss-Prot Function:
Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.
GENATLAS Biochemistry:
repair X-ray defect,complementing defect in CHO cells,4 with CAG repeat,involved in DNA double-strand break repair by end joining (non homologous recombination) and V(D)J recombination. Also involved in neurogenesis

Phenotypes From GWAS Catalog for XRCC4 Gene

Gene Ontology (GO) - Molecular Function for XRCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 NOT DNA binding IEA,IDA 9259561
GO:0005515 protein binding IPI 9809069
GO:0008022 protein C-terminus binding IPI 9259561
GO:0016874 NOT ligase activity IDA 9242410
GO:0042802 identical protein binding IPI 16169070
genes like me logo Genes that share ontologies with XRCC4: view
genes like me logo Genes that share phenotypes with XRCC4: view

Human Phenotype Ontology for XRCC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XRCC4 Gene

MGI Knock Outs for XRCC4:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XRCC4

Clone products for research

  • Addgene plasmids for XRCC4

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for XRCC4 Gene

Localization for XRCC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XRCC4 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for XRCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 NOT condensed chromosome IDA 12589063
GO:0005634 nucleus NAS 16439205
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA 9259561
GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex IBA,IDA 15194694
genes like me logo Genes that share ontologies with XRCC4: view

Pathways & Interactions for XRCC4 Gene

genes like me logo Genes that share pathways with XRCC4: view

Pathways by source for XRCC4 Gene

1 KEGG pathway for XRCC4 Gene
1 GeneGo (Thomson Reuters) pathway for XRCC4 Gene
  • DNA damage_NHEJ mechanisms of DSBs repair
1 Qiagen pathway for XRCC4 Gene
  • DNA Repair Mechanisms

Gene Ontology (GO) - Biological Process for XRCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IDA 9242410
GO:0006303 double-strand break repair via nonhomologous end joining IBA,TAS --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with XRCC4: view

No data available for SIGNOR curated interactions for XRCC4 Gene

Drugs & Compounds for XRCC4 Gene

(7) Drugs for XRCC4 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2429
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2449
S-(Dimethylarsenic)Cysteine Experimental Pharma Target 0
Platinum compounds Pharma 0
radiotherapy Pharma 0

(1) Additional Compounds for XRCC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XRCC4: view

Transcripts for XRCC4 Gene

mRNA/cDNA for XRCC4 Gene

5 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XRCC4

Clone products for research

  • Addgene plasmids for XRCC4

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC4 Gene

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

Relevant External Links for XRCC4 Gene

GeneLoc Exon Structure for
XRCC4

Expression for XRCC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XRCC4 Gene

Protein differential expression in normal tissues from HIPED for XRCC4 Gene

This gene is overexpressed in Plasma (19.9), Blymphocyte (10.4), Heart (8.7), and Urine (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for XRCC4 Gene



Protein tissue co-expression partners for XRCC4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XRCC4

SOURCE GeneReport for Unigene cluster for XRCC4 Gene:

Hs.567359

mRNA Expression by UniProt/SwissProt for XRCC4 Gene:

Q13426-XRCC4_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for XRCC4 Gene

  • Bone marrow(4.4)
  • Liver(4.4)
  • Blood(2.5)
  • Skin(2.5)
  • Nervous system(2.4)
  • Intestine(2.4)
  • Kidney(2.3)
  • Lung(2.2)
  • Spleen(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with XRCC4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for XRCC4 Gene

Orthologs for XRCC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for XRCC4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia XRCC4 29 30
  • 99.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia XRCC4 29 30
  • 87.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia XRCC4 29 30
  • 87.45 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Xrcc4 29 16 30
  • 81.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Xrcc4 29
  • 78.22 (n)
Oppossum
(Monodelphis domestica)
Mammalia XRCC4 30
  • 62 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia XRCC4 30
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves XRCC4 29 30
  • 66.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia XRCC4 30
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia xrcc4 29
  • 59.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32145 29
Zebrafish
(Danio rerio)
Actinopterygii xrcc4 29 30
  • 49.54 (n)
OneToOne
Species where no ortholog for XRCC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for XRCC4 Gene

ENSEMBL:
Gene Tree for XRCC4 (if available)
TreeFam:
Gene Tree for XRCC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XRCC4: view image
Alliance of Genome Resources:
Additional Orthologs for XRCC4

Paralogs for XRCC4 Gene

No data available for Paralogs for XRCC4 Gene

Variants for XRCC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XRCC4 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
988442 Pathogenic: not provided 83,258,641(+) TG/T
NM_003401.5(XRCC4):c.859del (p.Ala287fs)
FRAMESHIFT
rs1219764100 Likely Benign: not provided 83,111,047(+) C/T
NM_003401.5(XRCC4):c.159C>T (p.Ser53=)
SYNONYMOUS
rs143971157 Likely Benign: not provided 83,111,024(+) A/G
NM_003401.5(XRCC4):c.140-4A>G
INTRON
rs144653114 Benign: not provided 83,111,195(+) G/A
NM_003401.5(XRCC4):c.307G>A (p.Asp103Asn)
MISSENSE
rs1487140838 Likely Benign: not provided 83,204,875(+) T/G
NM_003401.5(XRCC4):c.699T>G (p.Thr233=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for XRCC4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for XRCC4 Gene

Variant ID Type Subtype PubMed ID
dgv1028e199 CNV deletion 23128226
dgv3113n106 CNV deletion 24896259
dgv709n27 CNV loss 19166990
dgv9906n54 CNV loss 21841781
esv2312144 CNV deletion 18987734
esv2659602 CNV deletion 23128226
esv2730397 CNV deletion 23290073
esv2730398 CNV deletion 23290073
esv2730399 CNV deletion 23290073
esv2730400 CNV deletion 23290073
esv3304480 CNV mobile element insertion 20981092
esv3429295 CNV insertion 20981092
esv3429828 CNV insertion 20981092
esv3557 CNV loss 18987735
esv3566196 CNV deletion 23714750
esv3605629 CNV loss 21293372
esv3605630 CNV loss 21293372
esv3605632 CNV loss 21293372
esv6941 CNV loss 19470904
nsv1025441 CNV loss 25217958
nsv1140360 OTHER inversion 24896259
nsv471019 CNV loss 18288195
nsv473709 CNV novel sequence insertion 20440878
nsv478540 CNV novel sequence insertion 20440878
nsv519738 CNV loss 19592680
nsv598780 CNV loss 21841781
nsv830365 CNV loss 17160897
nsv830366 CNV gain 17160897
nsv956460 CNV deletion 24416366

Variation tolerance for XRCC4 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.27; 88.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XRCC4 Gene

Human Gene Mutation Database (HGMD)
XRCC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XRCC4
Leiden Open Variation Database (LOVD)
XRCC4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC4 Gene

Disorders for XRCC4 Gene

MalaCards: The human disease database

(23) MalaCards diseases for XRCC4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

XRCC4_HUMAN
  • Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541]: A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia. {ECO:0000269 PubMed:24389050, ECO:0000269 PubMed:25728776, ECO:0000269 PubMed:25839420, ECO:0000269 PubMed:26255102}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for XRCC4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with XRCC4: view

No data available for Genatlas for XRCC4 Gene

Publications for XRCC4 Gene

  1. Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. (PMID: 25839420) Rosin N … Yigit G (Human molecular genetics 2015) 3 4 72
  2. Mutations in the NHEJ component XRCC4 cause primordial dwarfism. (PMID: 25728776) Murray JE … Bicknell LS (American journal of human genetics 2015) 3 4 72
  3. XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. (PMID: 26255102) Guo C … Ogi T (The Journal of allergy and clinical immunology 2015) 3 4 72
  4. Genomic analysis of primordial dwarfism reveals novel disease genes. (PMID: 24389050) Shaheen R … Alkuraya FS (Genome research 2014) 3 4 72
  5. Significant association of XRCC4 single nucleotide polymorphisms with childhood leukemia in Taiwan. (PMID: 20332465) Wu KH … Bau DT (Anticancer research 2010) 3 22 40

Products for XRCC4 Gene

Sources for XRCC4 Gene