產品貨號 :  mlR18886

英文名稱 :  RTEL1

中文名稱 :  非霍奇金淋巴瘤蛋白抗體

別    名 :  bK3184A7.3; C20orf41; Chromosome 20 open reading frame 41; DKCA4; DKCB5; DKFZP434C013; KIAA1088; NHL; Novel helicase like; Regulator of telomere elongation helicase 1; Regulator of telomere length; RP4-583P15.2; RTEL.  

研究領域 :  腫瘤  細胞生物  表觀遺傳學  

抗體來源 :  Rabbit

克隆類型 :  Polyclonal

交叉反應 :  Human, Rat,

產品應用 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蠟切片需做抗原修復）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  150kDa

細胞定位 :  細胞核

性    狀 :  Lyophilized or Liquid

濃    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human RTEL1:101-200/1219

亞    型 :  IgG

純化方法 :  affinity purified by Protein A

儲 存 液 :  0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

保存條件 :  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed :  PubMed

產品介紹 :  This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

Function:

ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

Subunit:

Interacts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex.

Subcellular Location:

Nuclear

DISEASE:

Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome.

Similarity:

Belongs to the helicase family. RAD3/XPD subfamily.

Contains 1 helicase ATP-binding domain.

SWISS:

Q9NZ71

Gene ID:

51750

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.