Description
Key facts
Cell type:U-87 MG,
Species or organism:Human,
Tissue:Brain,
Form:LiquidSee storage information,
Knockout validation:Next Generation Sequencing,
Disease:Glioblastoma
Product details:
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-IDH1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Next Generation Sequencing, 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.
IDH1 also known as isocitrate dehydrogenase 1 is an enzyme with a molecular weight of approximately 45 kDa. It participates in the citric acid cycle aiding the conversion of isocitrate to alpha-ketoglutarate while producing NADPH. IDH1 resides primarily in the cytoplasm and peroxisomes of cells. It finds expression in various tissues most notably the liver and brain where metabolic processes are highly active.
Biological function summary
Isocitrate dehydrogenase 1 plays an important role in cellular metabolism by helping to maintain the NADP+/NADPH balance important for redox reactions. This enzyme operates mainly as a homodimer meaning two identical subunits form a complex for functional activity. It contributes significantly to lipid and glucose metabolism due to its production of NADPH which the cells use for biosynthetic pathways and detoxification.
Pathways
The involvement of IDH1 in the citric acid cycle highlights its importance in energy production and metabolic regulation. This enzyme closely associates with other metabolic enzymes such as IDH2 another member of the isocitrate dehydrogenase family found in mitochondria suggesting a coordinated function between cytoplasmic and mitochondrial metabolism. Beyond its role in the citric acid cycle IDH1 also relates to the pentose phosphate pathway an alternative glucose metabolism route providing reducing equivalents and ribose 5-phosphate for nucleotide synthesis.
IDH1 mutations particularly the IDH1 R132H variant frequently appear in certain cancers like gliomas and acute myeloid leukemia (AML). These mutations lead to a neomorphic enzyme function producing 2-hydroxyglutarate instead of alpha-ketoglutarate disrupting normal cellular metabolism and aiding tumorigenesis. The mutated IDH1 also affects the TET2 protein which involves in DNA demethylation potentially altering gene expression and contributing to oncogenic pathways.
