Anti-ERCC6 Antibody (CAB18211)
- SKU:
- CAB18211
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
Frequently bought together:
Description
| 抗体名: | Anti-ERCC6 Antibody |
| 抗体コード: | CAB18211 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | IHC |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant protein of human ERCC6. |
| 申し込み: | IHC |
| 推奨希釈: | IHC 1:50 - 1:200 |
| 反応性: | Human |
| ポジティブサンプル: |
| 免疫原: | Recombinant protein of human ERCC6. |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | Email for sequence |
| 遺伝子ID: | 2074 |
| Uniprot: | Q03468 |
| セルラーロケーション: | |
| 計算された分子量: | 168kDa |
| 観察された分子量: | Refer to figures |
| 同義語: | CSB, CKN2, COFS, ARMD5, COFS1, POF11, RAD26, UVSS1, CSB-PGBD3, ERCC6 |
| バックグラウンド: | 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. |
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | 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 |
| NCBI Summary: | 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] |
| UniProt Code: | Q03468 |
| NCBI GenInfo Identifier: | 4557565 |
| NCBI Gene ID: | 2074 |
| NCBI Accession: | NP_000115.1 |
| UniProt Related Accession: | P0DP91,Q03468 |
| Molecular Weight: | |
| NCBI Full Name: | DNA excision repair protein ERCC-6 isoform 2 |
| NCBI Synonym Full Names: | ERCC excision repair 6, chromatin remodeling factor |
| NCBI Official Symbol: | ERCC6 |
| NCBI Official Synonym Symbols: | CSB; CKN2; COFS; ARMD5; COFS1; POF11; RAD26; UVSS1; CSB-PGBD3 |
| NCBI Protein Information: | DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein |
| UniProt Protein Name: | DNA excision repair protein ERCC-6 |
| UniProt Synonym Protein Names: | ATP-dependent helicase ERCC6; Cockayne syndrome protein CSB |
| Protein Family: | DNA excision repair protein |
| UniProt Gene Name: | ERCC6 |