产品详情
英文名称 FANCM
中文名称 范可尼贫血相关蛋白M抗体
别 名 FAAP250; Fanconi anemia group M protein; Protein Hef ortholog;
说 明 书 0.2ml
研究领域 细胞生物 发育生物学 表观遗传学
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human,
产品应用 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 范可尼贫血相关蛋白M抗体(石蜡切片需做抗原修复)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 232kDa
细胞定位 细胞核
性 状 Lyophilized or Liquid
浓 度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human FANCM
亚 型 IgG
纯化方法 affinity purified by Protein A
储 存 液 Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
保存条件 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.
范可尼贫血相关蛋白M抗体产品介绍 background:
Fanconi anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure, birth defects and chromosomal instability. At the cellular level, FA is characterized by spontaneous chromosomal breakage and a unique hypersensitivity to DNA cross-linking agents. The thirteen FA proteins that have been characterized are important for regulating chromosomal stability and genome surveillance. Eight of these proteins, namely FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM, comprise the FA core complex, which catalyzes a key reaction in DNA repair: the monoubiquitination of FANCD2. FANCM (Fanconi anemia, complementation group M) is a member of the DEAD-box helicase family of proteins and contains a DEAH helicase domain and a nuclease domain. Localizing to chromatin fractions, FANCM is phosphorylated in a cell cycle-dependent manner and is believed to function as an anchor, recruiting the FA core complex to chromatin. Mutations in the gene encoding FANCM can lead to Fanconi anemia.
Function:
FANCM is an ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. It binds to ssDNA but not to dsDNA.
Subunit:
Belongs to the multisubunit FA complex composed of APITD1, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. The complex is not found in FA patients. Interacts with APITD1/CENPS, FAAP24 and EME1.
Subcellular Location:
Nuclear.
Post-translational modifications:
Phosphorylated; hyperphosphorylated in response to genotoxic stress.
DISEASE:
Defects in FANCM are a cause of Fanconi anemia complementation group M (FANCM) [MIM:614087]. FANCM is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Similarity:
Belongs to the DEAD box helicase family. DEAH subfamily.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase C-terminal domain.
Database links:
UniProtKB/Swiss-Prot: Q8IYD8.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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