Excision Repair Cross Complementing Rodent Repair Deficiency Complementation 8 Recombinant Protein | ERCC8 recombinant protein

Recombinant Excision Repair Cross Complementing Rodent Repair Deficiency Complementation 8 (ERCC8)

Cat. Num. AAA2123282

• Gene Names: ERCC8; CSA; CKN1; UVSS2
• Applications: SDS-Page, Western Blot
• Purity: >90%
• Synonyms: Excision Repair Cross Complementing Rodent Repair Deficiency Complementation 8; Recombinant Excision Repair Cross Complementing Rodent Repair Deficiency Complementation 8 (ERCC8); CKN1; CSA; Cockayne Syndrome 1; Cockayne syndrome WD repeat protein CSA; DNA excision repair protein ERCC-8; ERCC8 recombinant protein

• Host: E Coli
• Purity/Purification: >90%
• Form/Format: Freeze-dried powder; PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
• Sequence Positions: Met1~Gly396
• Sequence Length: 396

• Applicable Applications for ERCC8 recombinant protein: Positive Control, Immunogen, SDS-PAGE, Western Blot (WB)
• Source: Prokaryotic expression
• Species: Human
• Tag: N-terminal His and GST Tag
• Subcellular Location: Nucleus
• Isoelectric Point: 5.9
• Reconstitution: Reconstitute in PBS or others.
• Preparation and Storage: Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months. Avoid repeated freeze/thaw cycles.; Stability: The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.

Product Categories/Family for ERCC8 recombinant protein

Signal transduction

NCBI and Uniprot Product Information

• NCBI GI #: 4557467
• NCBI GeneID: 1161
• NCBI Accession #: NP_000073.1
• NCBI GenBank Nucleotide #: NP_000073.1
• UniProt Accession #: Q13216
• Molecular Weight: Predicted Molecular Mass: 74.1kDa; Accurate Molecular Mass: 74kDa
• NCBI Official Full Name: DNA excision repair protein ERCC-8 isoform 1
• NCBI Official Synonym Full Names: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
• NCBI Official Symbol: ERCC8
• NCBI Official Synonym Symbols: CSA; CKN1; UVSS2
• NCBI Protein Information: DNA excision repair protein ERCC-8
• UniProt Protein Name: DNA excision repair protein ERCC-8
• Protein Family: DNA excision repair protein
• UniProt Gene Name: ERCC8
• UniProt Synonym Gene Names: CKN1; CSA
• UniProt Entry Name: ERCC8_HUMAN

NCBI Description

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

Uniprot Description

ERCC8: Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription- coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. Defects in ERCC8 are the cause of Cockayne syndrome type A (CSA). 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 ERCC8 are the cause of UV-sensitive syndrome type 2 (UVSS2). An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA repair, damage; Helicase; Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 5q12.1

Cellular Component: nucleoplasm; nucleotide-excision repair complex; nuclear matrix; protein complex; nucleus

Molecular Function: DNA-dependent ATPase activity; protein binding; DNA helicase activity; ubiquitin-protein ligase activity; protein complex binding

Biological Process: proteasomal ubiquitin-dependent protein catabolic process; protein autoubiquitination; positive regulation of DNA repair; protein polyubiquitination; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; response to oxidative stress; DNA repair; response to DNA damage stimulus; response to X-ray; response to UV

Disease: Cockayne Syndrome A; Uv-sensitive Syndrome 2