{"product_id":"abcam-ab114825","title":"Abcam, ab114825, Recombinant Human MBNL1 protein","description":"\u003cp\u003eSize: 10µg\u003cbr\u003e\nRecombinant Human MBNL1 protein is a Human Full Length protein, in the 1 to 343 aa range, expressed in Wheat germ, suitable for SDS-PAGE, ELISA, WB.\u003cbr\u003e\nKey facts\u003cbr\u003e\nExpression system:Wheat germ,\u003cbr\u003e\nTags:GST tag N-Terminus,\u003cbr\u003e\nApplications:SDS-PAGE, WB, ELISASee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,\u003cbr\u003e\nBiologically active:No,\u003cbr\u003e\nAccession:Q9NR56,\u003cbr\u003e\nAnimal free:No,\u003cbr\u003e\nCarrier free:No,\u003cbr\u003e\nSpecies:Human,\u003cbr\u003e\nStorage buffer:pH: 8Constituents: 0.79% Tris HCl, 0.3% Glutathione\u003c\/p\u003e\n\n\u003cp\u003eProduct details:\u003cbr\u003e\nThis product was previously labelled as Muscleblind-like 1.\u003c\/p\u003e\n\n\u003cp\u003eProperties and Storage Information:\u003cbr\u003e\nShipped at conditions-Dry Ice, Appropriate short-term storage conditions--80°C, Appropriate long-term storage conditions--80°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze \/ thaw cycle\u003c\/p\u003e\n\n\u003cp\u003eSupplementary Information:\u003cbr\u003e\nThis supplementary information is collated from multiple sources and compiled automatically.\u003cbr\u003e\nThe MBNL1 protein also known as Muscleblind-like protein 1 or MBNL1 is a RNA-binding protein with a molecular mass of approximately 38 kDa. This protein has a central role in the regulation of alternative splicing. It binds to specific RNA motifs and affects the splicing of pre-mRNA. MBNL1 is expressed widely in many tissues including skeletal and cardiac muscles as well as the brain indicating its wide-ranging importance in various cellular processes.\u003cbr\u003e\nBiological function summary\u003cbr\u003e\nThe MBNL1 protein is involved in the regulation of mRNA metabolism. It functions not just individually but often as a part of larger ribonucleic complexes impacting RNA stability and translation. MBNL1 controls the alternative splicing of numerous transcripts which is necessary for the proper development and function of tissues. Disruptions in MBNL1 activity can lead to mis-splicing of transcripts which demonstrates the key role it plays in maintaining cellular homeostasis.\u003cbr\u003e\nPathways\u003cbr\u003e\nThe MBNL1 protein contributes significantly to splicing regulation and muscle-specific gene expression pathways. It interacts with proteins like CELF1 which modulate pre-mRNA processing. These pathways are vital for muscle cell differentiation and maintenance with MBNL1 acting alongside other splicing factors to ensure the correct expression patterns necessary for tissue-specific functions. The balance between MBNL1 and its interacting partners influences splicing outcomes and gene expression.\u003cbr\u003e\nThe dysregulation of MBNL1 activity is implicated in myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). In these conditions expanded CUG or CCUG repeat RNAs sequester MBNL1 disrupting its function and leading to splicing abnormalities. Through this mechanism MBNL1 connects to other proteins like CUGBP1 which also influences splicing in muscle and other tissues. The resulting mis-splicing from impaired MBNL1 activity underlies many symptoms seen in these muscular disorders highlighting the protein's clinical relevance.\u003c\/p\u003e","brand":"Abcam","offers":[{"title":"Default Title","offer_id":46843872608425,"sku":"ab114825","price":0.99,"currency_code":"USD","in_stock":true}],"url":"https:\/\/iright.com\/es\/products\/abcam-ab114825","provider":"Iright","version":"1.0","type":"link"}