Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 2 bp insertion in exon 1
Product details:
We will provide viable cells that proliferate on revival.
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-EMD, 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
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Emerin also referred to as the emerin protein is a nuclear envelope protein with a mass of approximately 34 kDa. It belongs to a family of LEM domain proteins that localize at the inner nuclear membrane. Emerin predominantly expresses in cardiac and skeletal muscles but also appears in other tissues. Its primary mechanical role involves binding to the nuclear lamina structures and interacting with various nuclear proteins to maintain nuclear integrity and architecture.
Biological function summary
Emerin serves as an important component in mechanical signal transduction pathways. It interacts with barrier-to-autointegration factor (BAF) forming an important part of the nuclear envelope complex. This protein complex helps in chromatin organization and regulation of gene expression. Emerin influences nuclear assembly and shape and modulates chromatin attachment to the nuclear envelope playing an important role in nuclear processes.
Pathways
Emerin participates actively in the Emery-Dreifuss muscular dystrophy pathway and affects the interplay of other nuclear lamina components like lamin A/C. It stabilizes chromatin structure and cooperates with proteins such as nesprins and SUN proteins to regulate nuclear-cytoskeletal interactions. Emerin's involvement in these pathways highlights its role in maintaining mechanical resilience and functionality of the nuclear envelope impacting gene expression dynamics.
Emerin mutations relate to Emery-Dreifuss muscular dystrophy (EDMD) and other musculoskeletal disorders. Alteration in emerin disrupts its interaction with lamin A/C and BAF leading to nuclear envelope defects. This dysfunction manifests in muscle weakness and cardiac anomalies typical of EDMD. Understanding emerin's role offers insights into pathogenesis and potential therapeutic targets for these conditions.
