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Aliases for ERCC6 Gene

Aliases for ERCC6 Gene

  • ERCC Excision Repair 6, Chromatin Remodeling Factor 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6 2 3
  • Excision Repair Cross-Complementation Group 6 2 3
  • Cockayne Syndrome Protein CSB 3 4
  • ATP-Dependent Helicase ERCC6 3 4
  • CSB 3 4
  • DNA Excision Repair Protein ERCC-6 3
  • Cockayne Syndrome Group B Protein 3
  • Cockayne Syndrome B Protein 2
  • ERCC6-PGBD3 Fusion Protein 3
  • EC 3.6.4.- 4
  • EC 3.6.1 58
  • ARMD5 3
  • COFS1 3
  • POF11 3
  • RAD26 3
  • UVSS1 3
  • COFS 3
  • CKN2 3

External Ids for ERCC6 Gene

Previous HGNC Symbols for ERCC6 Gene

  • CKN2

Previous GeneCards Identifiers for ERCC6 Gene

  • GC10M049571
  • GC10M050559
  • GC10M050011
  • GC10M050336
  • GC10M050663
  • GC10M044929

Summaries for ERCC6 Gene

Entrez Gene Summary for ERCC6 Gene

  • This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]

GeneCards Summary for ERCC6 Gene

ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor) is a Protein Coding gene. Diseases associated with ERCC6 include Cerebrooculofacioskeletal Syndrome 1 and Cockayne Syndrome, Type B. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Nucleotide excision repair. GO annotations related to this gene include chromatin binding and protein C-terminus binding. An important paralog of this gene is ERCC6L.

UniProtKB/Swiss-Prot for ERCC6 Gene

  • Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.

  • Isoform 2: Like isoform 1, it is involved in repair of DNA damage, acting on its own or synergistically with isoform 1. May bind to PiggyBac transposable elements known as MER85 scattered in the genome and may therefore regulate the expression of nearby genes. Able to stimulate the antiviral response and modulate the expression of genes involved in metabolism regulation.

Gene Wiki entry for ERCC6 Gene

Additional gene information for ERCC6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC6 Gene

Genomics for ERCC6 Gene

Regulatory Elements for ERCC6 Gene

Enhancers for ERCC6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H050067 1.1 ENCODE 68 -528.6 -528554 1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF416 ZNF143 WASHC2A LINC00843 ERCC6 AGAP6 PARG RNA5SP317 MAPK6PS6 PGGT1BP1 LOC100421009 ENSG00000261368
GH10H049176 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +361.9 361905 1 HDGF ATF1 ARNT GTF3C2 ZNF766 ELK1 ZNF143 FOS ATF7 RUNX3 LINC00843 C10orf128 ERCC6 RNA5SP317 PARG RPL21P89 FAM170B
GH10H049186 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +350.5 350533 4 HDGF PKNOX1 TCF12 GATA2 ZNF143 ZNF207 ATF7 RUNX3 JUNB REST LINC00843 AGAP6 C10orf128 ERCC6 WASHC2A RNA5SP317 GC10P049274
GH10H049296 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +240.5 240506 6 HDGF PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF766 GATA2 ELK1 ATF7 LINC00843 AGAP6 DRGX ERCC6 WASHC2A RNA5SP317 C10orf71 C10orf71-AS1 GC10M049333
GH10H048667 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +869.1 869114 6 HDGF PKNOX1 TBL1XR1 RB1 SIN3A BMI1 BATF RFX5 ZNF143 ZNF207 ENSG00000236800 ERCC6 ARHGAP22 WDFY4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERCC6 on UCSC Golden Path with GeneCards custom track

Promoters for ERCC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000027904 438 1401 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for ERCC6 Gene

Chromosome:
10
Start:
49,454,480 bp from pter
End:
49,539,538 bp from pter
Size:
85,059 bases
Orientation:
Minus strand

Genomic View for ERCC6 Gene

Genes around ERCC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC6 Gene

Proteins for ERCC6 Gene

  • Protein details for ERCC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03468-ERCC6_HUMAN
    Recommended name:
    DNA excision repair protein ERCC-6
    Protein Accession:
    Q03468
    Secondary Accessions:
    • D3DX94
    • E7EV46
    • Q5W0L9

    Protein attributes for ERCC6 Gene

    Size:
    1493 amino acids
    Molecular mass:
    168416 Da
    Quaternary structure:
    • Homodimer. Binds DNA. Interacts with ERCC8. Interacts with a subunit of RNA polymerase II TFIIH. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with KIAA1530/UVSSA.

    Three dimensional structures from OCA and Proteopedia for ERCC6 Gene

    Alternative splice isoforms for ERCC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC6 Gene

Selected DME Specific Peptides for ERCC6 Gene

Q03468:
  • GTIEEKI
  • DEMGLGKT
  • MGLGKTIQ
  • QVTVYRL

Post-translational modifications for ERCC6 Gene

  • Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner. Stabilized following interaction with KIAA1530/UVSSA, which promotes recruitment of deubiquitinating enzyme USP7, leading to deubiquitination of ERCC6 thereby preventing UV-induced degradation of ERCC6 by the proteasome.
  • Ubiquitination at posLast=14571457
  • Modification sites at PhosphoSitePlus

Domains & Families for ERCC6 Gene

Gene Families for ERCC6 Gene

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

Protein Domains for ERCC6 Gene

Suggested Antigen Peptide Sequences for ERCC6 Gene

Graphical View of Domain Structure for InterPro Entry

Q03468

UniProtKB/Swiss-Prot:

ERCC6_HUMAN :
  • A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair to proceed.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair to proceed.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with ERCC6: view

Function for ERCC6 Gene

Molecular function for ERCC6 Gene

GENATLAS Biochemistry:
excision repair cross-complementing rodent repair defect in CHO cells,complementation group 6,preferential repair of transcribed strand,yeast RAD26 homolog (see CKN2)
UniProtKB/Swiss-Prot Function:
Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.
UniProtKB/Swiss-Prot Function:
Isoform 2: Like isoform 1, it is involved in repair of DNA damage, acting on its own or synergistically with isoform 1. May bind to PiggyBac transposable elements known as MER85 scattered in the genome and may therefore regulate the expression of nearby genes. Able to stimulate the antiviral response and modulate the expression of genes involved in metabolism regulation.

Enzyme Numbers (IUBMB) for ERCC6 Gene

Phenotypes From GWAS Catalog for ERCC6 Gene

Gene Ontology (GO) - Molecular Function for ERCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,IDA 8999876
GO:0003678 NOT DNA helicase activity IDA 8999876
GO:0003682 chromatin binding IDA 16916636
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 7663514
genes like me logo Genes that share ontologies with ERCC6: view
genes like me logo Genes that share phenotypes with ERCC6: view

Human Phenotype Ontology for ERCC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC6 Gene

MGI Knock Outs for ERCC6:

Animal Model Products

CRISPR Products

miRNA for ERCC6 Gene

miRTarBase miRNAs that target ERCC6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ERCC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for ERCC6 Gene

Localization for ERCC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC6 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 ERCC6 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ERCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12560492
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 16107709
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ERCC6: view

Pathways & Interactions for ERCC6 Gene

genes like me logo Genes that share pathways with ERCC6: view

Gene Ontology (GO) - Biological Process for ERCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000303 response to superoxide IEA --
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS,IMP --
GO:0006284 base-excision repair IMP 9973627
GO:0006290 pyrimidine dimer repair IEA --
genes like me logo Genes that share ontologies with ERCC6: view

No data available for SIGNOR curated interactions for ERCC6 Gene

Drugs & Compounds for ERCC6 Gene

(1) Drugs for ERCC6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for ERCC6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERCC6: view

Transcripts for ERCC6 Gene

Unigene Clusters for ERCC6 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ERCC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC6 Gene

No ASD Table

Relevant External Links for ERCC6 Gene

GeneLoc Exon Structure for
ERCC6
ECgene alternative splicing isoforms for
ERCC6

Expression for ERCC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERCC6 Gene

Protein differential expression in normal tissues from HIPED for ERCC6 Gene

This gene is overexpressed in Plasma (26.0), Heart (8.6), Retina (7.9), Placenta (7.4), and Blymphocyte (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERCC6 Gene



Protein tissue co-expression partners for ERCC6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERCC6 Gene:

ERCC6

SOURCE GeneReport for Unigene cluster for ERCC6 Gene:

Hs.49063

mRNA Expression by UniProt/SwissProt for ERCC6 Gene:

Q03468-ERCC6_HUMAN
Tissue specificity: Expressed in heart, ovary, but not in granulosa cells.

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ERCC6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from TISSUES for ERCC6 Gene

Orthologs for ERCC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC6 34 33
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC6 33
  • 86.59 (n)
ERCC6L 34
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC6 33 34
  • 85.25 (n)
mouse
(Mus musculus)
Mammalia Ercc6 33 16 34
  • 81.9 (n)
rat
(Rattus norvegicus)
Mammalia Ercc6 33
  • 80.81 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC6 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC6 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERCC6 34 33
  • 69.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERCC6 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12707 33
zebrafish
(Danio rerio)
Actinopterygii ercc6 34 33
  • 65.27 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea csb-1 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD26 34 36
  • 37 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.24886 33
Species where no ortholog for ERCC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Evolution for ERCC6 Gene

ENSEMBL:
Gene Tree for ERCC6 (if available)
TreeFam:
Gene Tree for ERCC6 (if available)

Paralogs for ERCC6 Gene

Paralogs for ERCC6 Gene

(7) SIMAP similar genes for ERCC6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ERCC6: view

Variants for ERCC6 Gene

Sequence variations from dbSNP and Humsavar for ERCC6 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121917905 Pathogenic, Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150] 49,471,085(-) AGTGC(C/T)AAAAG reference, missense
rs202080674 Pathogenic, Cockayne syndrome B (CSB) [MIM:133540] 49,482,848(+) GATCC(A/G)ATGAG reference, missense
rs368728467 Pathogenic, Cockayne syndrome B (CSB) [MIM:133540] 49,474,074(+) GTGCC(A/G)TATTT reference, missense
rs751292948 Cockayne syndrome B (CSB) [MIM:133540] 49,482,798(+) AGCGA(C/G)CACAG reference, missense
VAR_001220 Cockayne syndrome B (CSB) [MIM:133540]

Structural Variations from Database of Genomic Variants (DGV) for ERCC6 Gene

Variant ID Type Subtype PubMed ID
esv2339896 CNV deletion 18987734
esv3578864 CNV loss 25503493
esv5944 CNV gain 19470904
nsv1042677 CNV loss 25217958
nsv1051636 CNV loss 25217958
nsv1149662 CNV duplication 26484159
nsv6632 CNV insertion 18451855
nsv831867 CNV gain 17160897
nsv947979 CNV duplication 23825009

Variation tolerance for ERCC6 Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.49; 92.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERCC6 Gene

Human Gene Mutation Database (HGMD)
ERCC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC6 Gene

Disorders for ERCC6 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ERCC6 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ERCC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERCC6_HUMAN
  • Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150]: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. {ECO:0000269 PubMed:19894250}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cockayne syndrome B (CSB) [MIM:133540]: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. {ECO:0000269 PubMed:10447254, ECO:0000269 PubMed:19894250, ECO:0000269 PubMed:9443879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • De Sanctis-Cacchione syndrome (DSC) [MIM:278800]: An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular degeneration, age-related, 5 (ARMD5) [MIM:613761]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:16754848}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Premature ovarian failure 11 (POF11) [MIM:616946]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:26218421}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • UV-sensitive syndrome 1 (UVSS1) [MIM:600630]: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. {ECO:0000269 PubMed:15486090}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ERCC6

Genetic Association Database (GAD)
ERCC6
Human Genome Epidemiology (HuGE) Navigator
ERCC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC6
genes like me logo Genes that share disorders with ERCC6: view

No data available for Genatlas for ERCC6 Gene

Publications for ERCC6 Gene

  1. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. (PMID: 10767341) Colella S … Stefanini M (Human molecular genetics 2000) 3 4 22 45 60
  2. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (PMID: 19894250) Laugel V … Dollfus H (Human mutation 2010) 3 4 22 60
  3. Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase. (PMID: 19179336) Muftuoglu M … Bohr VA (The Journal of biological chemistry 2009) 2 3 22 60
  4. ERCC6/CSB gene polymorphisms and lung cancer risk. (PMID: 18789574) Ma H … Shen H (Cancer letters 2009) 3 22 45 60
  5. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. (PMID: 18369450) Newman JC … Weiner AM (PLoS genetics 2008) 3 4 22 60

Products for ERCC6 Gene

Sources for ERCC6 Gene

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