• CSB Polyclonal Antibody
1 1

Upingbio

YP-Ab-01629-100UL

CSB Polyclonal Antibody

CSB Polyclonal Antibody

$0.00 USD
$0.00 USD
Sale Sold out
Shipping calculated at checkout.
Size
  • Gene Name: ERCC6
  • Immunogen: The antiserum was produced against synthesized peptide derived from human ERCC6. AA range:141-190
  • Specificity: CSB Polyclonal Antibody detects endogenous levels of CSB protein.
  • Composition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • Source: Polyclonal, Rabbit,IgG
  • Dilution ratio: IHC: 1/100 - 1/300. ELISA: 1/40000.. IF 1:50-200
  • Purification process: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • Concentration: 1 mg/ml
  • Storage: -20°C/1 year
  • Other Names: ERCC6; CSB; DNA excision repair protein ERCC-6; ATP-dependent helicase ERCC6; Cockayne syndrome protein CSB
  • Background: 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],
  • Function: disease: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.,disease: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.,disease: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,
  • Species: Human;Rat;Mouse;
  • Range: IHC;IF;ELISA
  • Protein: DNA excision repair protein ERCC-6
View full details