MBNL1蛋白抗体
规格：1mg/1ml
英文名： MBNL1
别名： Muscleblind-like 1; EXP; EXP35; EXP40; EXP42; KIAA0428; MBNL; MBNL protein; MBNL1; MBNL1_HUMAN; Muscleblind 41kD isoform; Muscleblind like; Muscleblind like protein 1; Muscleblind like splicing regula
分子量： 41kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human MBNL1
交叉反应：Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞核 细胞浆
MBNL1蛋白抗体产品介绍：background: MBNL1 is a deduced 370 amino acid protein which is predominantly expressed in skeletal muscle, prostate, lung, heart, small intestine, ovary and placenta tissues. MBNL1 and MBNL2, which associate with ex-panded CUG repeats in vitro, both localize to the nuclear foci in both DM1 and DM2 (myotonic dystrophy types 1 and 2), suggesting that the nuclear accumulation of mutant RNA is pathogenic in DM1, therefore implicating MBNL1 and 2 in the pathogenesis of both disorders. Function: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. Subcellular Location: Nucleus. Cytoplasm. Cytoplasmic granule. Localized with DDX1, TIAL1 and YBX1 in stress granules upon stressMBNL1蛋白抗体. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy. Tissue Specificity: Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. DISEASE: Plays a role in the pathogenesis of dystrophia myotonica type 1 (DM1) [MIM:160900]. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=In muscle cells from DM1 patients, MBNL1 is sequestered by DMPK RNAs containing CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the MBNL1蛋白抗体direct correlation between the length of repeat expansion and disease severity. Similarity: Belongs to the muscleblind family. Contains 4 C3H1-type zinc fingers. Gene ID: 4154 Database links: Entrez Gene: 4154 Human Entrez Gene: 425033 Chicken Entrez Gene: 781653 Cow Entrez Gene: 56758 Mouse Entrez Gene: 282635 Rat Omim: 606516 Human SwissProt: Q5ZKW9 Chicken SwissProt: Q9NR56 Human SwissProt: Q9JKP5 Mouse Unigene: 201858 Human Unigene: 725347 Human Unigene: 255723 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
MBNL1蛋白抗体产品应用：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 （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.
研究领域：细胞生物 转录调节因子
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid