{"product_id":"abcam-ab265038","title":"Abcam, ab265038, Human GBA knockout HeLa cell line","description":"\u003cp\u003eSize: 1000000Cells \/ vial \/ 2 x 1000000Cells \/ vial\u003cbr\u003e\nGBA1 KO cell line available to order. KO validated by Western blot. Free of charge wild type control available. Knockout achieved by using CRISPR\/Cas9, Homozygous: 1 bp insertion in exon 3. 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:HeLa,\u003cbr\u003e\nSpecies or organism:Human,\u003cbr\u003e\nTissue:Cervix,\u003cbr\u003e\nForm:LiquidSee storage information,\u003cbr\u003e\nKnockout validation:Sanger Sequencing,Western blot,\u003cbr\u003e\nMutation description:Knockout achieved by using CRISPR\/Cas9, Homozygous: 1 bp insertion in exon 3,\u003cbr\u003e\nAntibiotic resistance:Puromycin 1µg\/mL,\u003cbr\u003e\nDisease:Adenocarcinoma\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-GBA1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, 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\nGBA also known as glucosylceramidase is a lysosomal enzyme with a molecular mass of approximately 59 kDa. This enzyme breaks down glucosylceramide into glucose and ceramide. GBA is expressed predominantly in tissues with high metabolic activities such as the brain liver and spleen. Its function relies on its catalytic activity where substrates bind to its active site enabling the hydrolysis process necessary for maintaining cellular metabolism.\u003cbr\u003e\nBiological function summary\u003cbr\u003e\nGBA plays an important role in sphingolipid metabolism. It participates in the degradation of glycolipids within the lysosome contributing to lipid recycling. It acts independently rather than as a part of a major enzymatic complex. Through its role in degrading glucosylceramide GBA influences cellular homeostasis and bioenergetics ensuring balance in neural and systemic lipid levels.\u003cbr\u003e\nPathways\u003cbr\u003e\nGBA's enzymatic functions are integral to the glycosphingolipid metabolic pathway. It is involved in the downstream steps of the lysosomal degradation of glycosphingolipids. The pathway operates alongside other important proteins such as beta-glucosidase and CERT-related transfer proteins all of which contribute to membrane lipid organization and signal transduction processes.\u003cbr\u003e\nGBA mutations are linked with Gaucher disease and Parkinson's disease. In Gaucher disease deficient GBA activity leads to substrate accumulation resulting in hepatosplenomegaly and other systemic symptoms. Reduced GBA activity is also associated with increased alpha-synuclein aggregation in Parkinson's disease implicating it in the pathogenesis of neurodegenerative disorders. The enzyme's function in these diseases highlights its role in maintaining cellular equilibrium and signaling pathways.\u003c\/p\u003e","brand":"Abcam","offers":[{"title":"Default Title","offer_id":46845058416809,"sku":"ab265038","price":0.99,"currency_code":"USD","in_stock":true}],"url":"https:\/\/iright.com\/es\/products\/abcam-ab265038","provider":"Iright","version":"1.0","type":"link"}