Rabbit Polyclonal (IgG) to Human ERCC6 / CSB; Human ERCC6 / CSB; ARMD5; Cockayne syndrome B protein; Cockayne syndrome protein CSB; COFS; Rad26 homolog; ATP-dependent helicase ERCC6; CKN2; COFS1; RAD26; UVSS1

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

Polyclonal

IgG

Rabbit

Human CSB / ERCC6

Immunoaffinity purified

0.1 M Tris-glycine, pH 7.0, 10% glycerol, 0.01% Thimerosal

1 mg/ml (lot specific)

Keep as concentrated solution. Aliquot and store at -20 degree C or below. Avoid multiple freeze-thaw cycles.

Small volumes of anti-ERCC6 / CSB 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.

ERCC6 Antibody, ARMD5 Antibody, Cockayne syndrome B protein Antibody, Cockayne syndrome protein CSB Antibody, COFS Antibody, CSB Antibody, Rad26 homolog Antibody, ATP-dependent helicase ERCC6 Antibody, CKN2 Antibody, COFS1 Antibody, RAD26 Antibody, UVSS1 Antibody Description: 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.

Immunohistochemistry (IHC) Paraffin

IHC-P (7.5 ug/ml)

Anti-CSB / ERCC6 antibody IHC staining of human colon. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 7.5 ug/ml.

168,416 Da

excision repair cross-complementation group 6

DNA excision repair protein ERCC-6

DNA excision repair protein ERCC-6

CSB??[Similar Products]

ERCC6_HUMAN

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. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]

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 3.6.4.-; Helicase; EC 3.6.1.-; 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: activation of JNK activity; activation of JNKK activity; base-excision repair; DNA damage response, signal transduction resulting in induction of apoptosis; DNA repair; gene expression; multicellular organism growth; nucleotide-excision repair; photoreceptor cell maintenance; positive regulation of gene expression, epigenetic; positive regulation of RNA elongation; pyrimidine dimer repair; regulation of gene expression, epigenetic; regulation of RNA elongation; response to gamma radiation; response to oxidative stress; response to superoxide; response to toxin; response to UV; response to UV-B; response to X-ray; RNA elongation from RNA polymerase I promoter; transcription from RNA polymerase II promoter; transcription-coupled nucleotide-excision repair

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

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