ARMD 5; ARMD5; CKN 2; CKN2; COFS; COFS1; CSB; ERCC 6; ERCC6; RAD26; UVSS1; Q03468; DNA excision repair protein ERCC-6; ERCC excision repair 6, chromatin remodeling factor

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Immunogen affinity purified.

Lyophilized
Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.

Store at -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-ERCC6 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Rabbit IgG polyclonal antibody for DNA excision repair protein ERCC-6(ERCC6) detection.
Background: DNA excision repair protein ERCC-6 (also CS-B protein) is a protein that in humans is encoded by the 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, 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.

Western Blot (WB)

Western Blot: 0.1-0.5ug/ml

Western blot analysis of CSB expression in rat liver extract (lane 1) and COLO320 whole cell lysates (lane 2). CSB at 168KD was detected using rabbit anti- CSB Antigen Affinity purified polyclonal antibody at 0.5 ug/mL. The blot was developed using chemiluminescence (ECL) method.

119,487 Da

ERCC excision repair 6, chromatin remodeling factor

DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein

DNA excision repair protein ERCC-6

CSB??[Similar Products]

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]

ERCC6: 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. Defects in ERCC6 are the cause of Cockayne syndrome type B (CSB). Cockayne syndrome is 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. Defects in ERCC6 are the cause of cerebro-oculo-facio- skeletal syndrome type 1 (COFS1); also known as COFS syndrome or Pena-Shokeir syndrome type 2. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur. Defects in ERCC6 are a cause of De Sanctis-Cacchione syndrome (DSC); also known as xerodermic idiocy. DSC is an autosomal recessive syndrome consisting of xeroderma pigmentosum associated with mental retardation, retarded growth, gonadal hypoplasia and sometimes neurologic complications. Defects in ERCC6 are the cause of susceptibility to age- related macular degeneration type 5 (ARMD5). 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. Defects in ERCC6 are a cause of UV-sensitive syndrome type 1 (UVSS1). A rare autosomal recessive disorder characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. Patient exhibit a number of freckles, hypopigmented spots, telangiectases, and slightly dried skin in sun-exposed areas. Belongs to the SNF2/RAD54 helicase family.

Protein type: DNA repair, damage; EC 3.6.1.-; EC 3.6.4.-; Helicase; Transcription regulation

Chromosomal Location of Human Ortholog: 10q11.23

Cellular Component: nucleolus; nucleoplasm; nucleus; transcription elongation factor complex

Molecular Function: ATP binding; chromatin binding; DNA binding; DNA helicase activity; DNA-dependent ATPase activity; protein binding; protein C-terminus binding; protein complex binding; protein N-terminus binding; protein tyrosine kinase activator activity

Biological Process: base-excision repair; positive regulation of gene expression, epigenetic; positive regulation of RNA elongation; regulation of RNA elongation; response to oxidative stress; response to UV; transcription-coupled nucleotide-excision repair

Disease: Cerebrooculofacioskeletal Syndrome 1; Cockayne Syndrome B; De Sanctis-cacchione Syndrome; Lung Cancer; Macular Degeneration, Age-related, 5; Premature Ovarian Failure 11; Uv-sensitive Syndrome 1

1. Muftuoglu M, de Souza-Pinto NC, Dogan A, Aamann M, Stevnsner T, Rybanska I, Kirkali G, Dizdaroglu M, Bohr VA (Apr 2009). "Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase". The Journal of Biological Chemistry 284 (14): 9270-9.
2. Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH (Dec 1992). "ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes". Cell 71 (6): 939-53.

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