Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 239 bp insertion in exon6.,
Disease:Adenocarcinoma
Product details:
Knockout cell lysate achieved by CRISPR/Cas9.
REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.
Lysate preparation:
Our lysates are made using RIPA buffer to which we add a protease inhibitor cocktail and phosphatase inhibitor cocktail (ratio: 300:100:10).
This means that the protein of interest is denatured.
If you require a native form of the protein please use the live cell version. Please refer to our lysis protocol for further details on how our lysates are prepared.
User storage instructions:
Lyophilizate may be stored at 4°C. After reconstitution, store at -20°C for short-term storage or -80°C for long-term storage.
This 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
limited use license
patent pages
Properties and Storage Information:
Gene name-KMT2C, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Shipped at conditions-Ambient - Can Ship with Ice, Appropriate short-term storage conditions--20°C, Appropriate long-term storage conditions--20°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
KMT2C also known as MLL3 is a histone methyltransferase enzyme. Its mass is approximately 553 kDa. This protein exists in various tissues but expresses highly in the brain and bone marrow. It is part of the SET1 family of methyltransferases and plays an important role in modifying chromatin architecture by catalyzing the methylation of histone H3 lysine 4 (H3K4) a modification associated with active transcription.
Biological function summary
KMT2C impacts diverse cellular functions through its participation in the COMPASS-like complex which acetylates histone tails to regulate gene expression. This function is important in controlling genes linked to development and differentiation. KMT2C also supports the maintenance of genomic stability. Mutations in this protein often disrupt important brain and immune processes implicating its importance in physiological conditions.
Pathways
KMT2C plays a vital role in the Wnt and Hedgehog signaling pathways. These pathways regulate embryonic development cell fate decisions and cellular proliferation. Interaction with proteins such as β-catenin and GLI3 links KMT2C with the transcriptional activation of target genes further extending its influence on gene expression regulation and developmental processes.
Mutations or dysregulation of KMT2C are linked to cancers and Kabuki syndrome. In cancers KMT2C often exhibits loss-of-function mutations impacting tumor suppressor capabilities. In Kabuki syndrome alterations in KMT2C disrupt developmental signaling manifesting in intellectual disabilities and characteristic facial features. Interactions with proteins like EZH2 and KDM6A suggest KMT2C's critical involvement in disease pathogenesis and potential pathways for therapeutic intervention.
