延伸因子结合蛋白EFTUD2抗体说明书

中文名称    延伸因子结合蛋白EFTUD2抗体    

英文名称    EFTUD2

别    名    116 kDa; 116 kDa U5 small nuclear ribonucleoprotein component; EFTUD2; Elongation factor Tu GTP binding domain containing 2; Elongation factor Tu GTP-binding domain-containing protein 2; hSNU114; MFDM; Snrp116; Snu114; SNU114 homolog; U5 116KD; U5 small nuclear ribonucleoprotein component; U5 snRNP specific protein, 116 kD; U5 snRNP specific protein, 116 kDa; U5 snRNP-specific protein; U5-116 kDa; U5S1_HUMAN.    

供 应 商    远慕生物    

研究领域    细胞生物  表观遗传学      

抗体来源    Rabbit    

克隆类型    Polyclonal    

交叉反应    Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,     

产品应用    WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 延伸因子结合蛋白EFTUD2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    109kDa    

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 EFTUD2    

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.    

延伸因子结合蛋白EFTUD2抗体产品介绍    background:

Spliceosomes are multi-protein complexes that are composed of snRNPs (small nuclear ribonucleoproteins) and a variety of associated protein factors, all of which work in concert to regulate the splicing of pre-mRNA. Snrp116, also known as EFTUD2 (elongation factor Tu GTP binding domain containing 2) or Snu114, is a 972 amino acid protein that localizes to the nucleus and belongs to the GTP-binding elongation factor family. Existing as a component of the multi-protein U5 snRNP spliceosome complex, Snrp116 plays an important role in pre-mRNA splicing, as well as in the recycling of spliceosomal snRNPs. The gene encoding Snrp116 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes.

Function:
Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP.

Subunit:
Identified in the spliceosome C complex. Interacts with ERBB4 and PRPF8.

Subcellular Location:
Nucleus.

Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.

DISEASE:
Defects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]. A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.

Similarity:
Belongs to the GTP-binding elongation factor family.
EF-G/EF-2 subfamily.

Database links:
UniProtKB/Swiss-Prot: Q15029.1