{"product_id":"abcam-ab265644","title":"Abcam, ab265644, Human GALK1 knockout HeLa cell line","description":"\u003cp\u003eSize: 2 x 1000000Cells \/ vial \/ 1000000Cells \/ vial\u003cbr\u003e\nGALK1 KO cell line available to order. KO validated by. Free of charge wild type control available. Knockout achieved by using CRISPR\/Cas9, 1 bp deletion in exon 1 and 2 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:HeLa,\u003cbr\u003e\nSpecies or organism:Human,\u003cbr\u003e\nTissue:Cervix,\u003cbr\u003e\nForm:LiquidSee storage information,\u003cbr\u003e\nKnockout validation:Sanger Sequencing,\u003cbr\u003e\nMutation description:Knockout achieved by using CRISPR\/Cas9, 1 bp deletion in exon 1 and 2 bp insertion in exon 1,\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-GALK1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, 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\nGALK1 also known as galactokinase 1 is an enzyme with a molecular mass of approximately 42 kDa. It catalyzes the phosphorylation of galactose to galactose-1-phosphate an important first step in galactose metabolism. GALK1 is expressed mainly in the liver kidney and brain where it plays a critical role in processing galactose derived from the diet. Its activity ensures the proper utilization of galactose for energy production and biosynthetic processes.\u003cbr\u003e\nBiological function summary\u003cbr\u003e\nThe phosphorylation by GALK1 initiates the Leloir pathway facilitating efficient galactose metabolism. GALK1 does not form part of a larger protein complex but acts independently to enable the conversion of galactose to intermediates useful in glycolysis and glycogenesis. By doing so it supports normal cellular functions and contributes to the maintenance of cellular energy balance.\u003cbr\u003e\nPathways\u003cbr\u003e\nGALK1 functions at the beginning of the Leloir pathway critical for galactose processing. This pathway includes the conversion of galactose-1-phosphate to glucose-1-phosphate a reaction controlled by related enzymes like GALT (galactose-1-phosphate uridylyltransferase). GALK1's activity is interconnected with glucose metabolism bridging galactose and glucose metabolic pathways ensuring galactose can be converted for energy production or storage.\u003cbr\u003e\nMutations in GALK1 can lead to galactokinase deficiency which causes galactosemia type II. This condition results in the accumulation of galactitol leading to cataracts development in early childhood. Galactokinase deficiency can also disturb normal carbohydrate metabolism indirectly affecting other proteins such as GALT. Understanding GALK1's function and genetic variants helps in diagnosing and managing galactosemia and its related complications.\u003c\/p\u003e","brand":"Abcam","offers":[{"title":"Default Title","offer_id":46845158752425,"sku":"ab265644","price":0.99,"currency_code":"USD","in_stock":true}],"url":"https:\/\/iright.com\/es\/products\/abcam-ab265644","provider":"Iright","version":"1.0","type":"link"}