{"product_id":"abcam-ab266366","title":"Abcam, ab266366, Human DMPK (Dystrophia myotonica protein kinase) knockout HEK-293T cell line","description":"\u003cp\u003eSize: 2 x 1000000Cells \/ vial \/ 1000000Cells \/ vial\u003cbr\u003e\nDMPK KO cell line available to order. KO validated by. Free of charge wild type control available. Knockout achieved by using CRISPR\/Cas9, Homozygous: 1 bp insertion in exon 1. To order both knockout and wild-type control cells: select 2 x 1000000Cells\/vial. To order only knockout cells: select 1000000Cells\/vial.\u003cbr\u003e\nKey facts\u003cbr\u003e\nCell type:HEK-293T,\u003cbr\u003e\nSpecies or organism:Human,\u003cbr\u003e\nTissue:Kidney,\u003cbr\u003e\nForm:LiquidSee storage information,\u003cbr\u003e\nKnockout validation:Sanger Sequencing,\u003cbr\u003e\nMutation description:Knockout achieved by using CRISPR\/Cas9, Homozygous: 1 bp insertion in exon 1\u003c\/p\u003e\n\n\u003cp\u003eProduct details:\u003cbr\u003e\nWe will provide viable cells that proliferate on revival.\u003cbr\u003e\nThis product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our\u003cbr\u003e\nlimited use license\u003cbr\u003e\npatent pages\u003c\/p\u003e\n\n\u003cp\u003eProperties and Storage Information:\u003cbr\u003e\nGene name-DMPK, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C\u003c\/p\u003e\n\n\u003cp\u003eSupplementary Information:\u003cbr\u003e\nThis supplementary information is collated from multiple sources and compiled automatically.\u003cbr\u003e\nDystrophia myotonica protein kinase also known as DMPK is a serine-threonine kinase with a molecular mass of approximately 69 kDa. The protein localizes mainly in muscle heart and brain tissues serving critical roles in cellular signaling. DMPK influences various cellular processes through its kinase activity modulating several substrates by phosphorylation. This protein is generally expressed in the cytoplasm but can also localize to membranes influencing ion channel activity and cytoskeletal dynamics.\u003cbr\u003e\nBiological function summary\u003cbr\u003e\nDMPK acts to regulate muscle function and integrity by modulating phosphorylation states within cells. It is not typically part of known multi-protein complexes but works alongside other kinases to affect signaling pathways. For example DMPK can influence actin filaments and myosin phosphorylation contributing to muscle cell contractility and stability. This regulatory function is essential for the maintenance of normal muscle tone and function.\u003cbr\u003e\nPathways\u003cbr\u003e\nDMPK participates actively in RhoA and MAPK signaling pathways. DMPK impacts the RhoA pathway by regulating cytoskeletal organization and cell morphology interacting with proteins like Rho kinase to modulate muscle contraction. In the MAPK pathway DMPK plays a role in stress response signaling impacting proteins such as ERK that control gene expression in response to stressors.\u003cbr\u003e\nDMPK is strongly connected to myotonic dystrophy type 1 (DM1) a genetic disorder characterized by muscle weakness and myotonia. Aberrant expression of DMPK due to triplet repeat expansions in its gene leads to toxic RNA accumulation disrupting normal cellular function. This disorder also shares pathogenic features with MBNL1 where both proteins influence RNA-binding and processing contributing to the DM1 phenotype. Understanding the role of DMPK in these conditions may offer insights into potential therapeutic strategies.\u003c\/p\u003e","brand":"Abcam","offers":[{"title":"Default Title","offer_id":46845195813033,"sku":"ab266366","price":0.99,"currency_code":"USD","in_stock":true}],"url":"https:\/\/iright.com\/products\/abcam-ab266366","provider":"Iright","version":"1.0","type":"link"}