Recombinant Human CSB protein (ab114506)
Key features and details
- Expression system: Wheat germ
- Suitable for: ELISA, SDS-PAGE, WB
Description
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Product name
Recombinant Human CSB protein -
Expression system
Wheat germ -
Accession
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Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
RARNHLILPERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAHTDG QASTREILQEFESKLSASQSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC -
Predicted molecular weight
37 kDa including tags -
Amino acids
1394 to 1493
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Specifications
Our Abpromise guarantee covers the use of ab114506 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
ELISA
SDS-PAGE
Western blot
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Form
Liquid -
Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.3% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- 4732403I04
- ARMD 5
- ARMD5
see all -
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. -
Involvement in disease
Defects in ERCC6 are the cause of Cockayne syndrome type B (CSB) [MIM:133540]. 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) [MIM:214150]; 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) [MIM:278800]; 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.
Note=A genetic variation in the 5-prime flanking region of ERCC6 has been shown to be associated with susceptibility to age-related macular degeneration.
Defects in ERCC6 are a cause of UV-sensitive syndrome (UVS) [MIM:600630]. UVS is a rare autosomal recessive disorder characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. -
Sequence similarities
Belongs to the SNF2/RAD54 helicase family.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase C-terminal domain. -
Domain
A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair to proceed. -
Post-translational
modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.
Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner. -
Cellular localization
Nucleus. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab114506 has not yet been referenced specifically in any publications.