Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: Insertion of the selection cassette in exon 2
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-COA4, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, 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.
CHCHD8 is a mitochondrial protein also known as Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 8. It features a molecular mass of approximately 23 kDa. Researchers find CHCHD8 expressed predominantly in the mitochondria of skeletal muscle heart and brain tissues. This protein contributes to mitochondrial function and organization assisting in the maintenance of cellular energy and balance.
Biological function summary
CHCHD8 acts as a component of the mitochondrial intermembrane space bridging complex (MICOS). This complex plays a pivotal role in maintaining mitochondrial architecture and integrity. CHCHD8 contributes to the folding and assembly of other mitochondrial proteins. Its interactions within the MICOS complex reveal its influence on cristae morphology which is essential for the proper function of the electron transport chain.
Pathways
CHCHD8 takes part in mitochondrial biogenesis and cellular respiration pathways. These pathways are important for cell energy production and metabolic balance. CHCHD8 participates alongside proteins such as CHCHD3 and SAMM50 in regulating the structure and function of mitochondria integrating signals related to energy requirements and reactive oxygen species handling.
CHCHD8 has a connection with neuromuscular diseases and mitochondrial myopathies. Mutations or disruptions in CHCHD8 can lead to impaired mitochondrial function contributing to disease pathology. CHCHD8 is linked with CHCHD10 another protein implicated in similar disorders highlighting their combined importance in mitochondrial and neuromuscular health.
