Abcam, ab265886, Human MVB12A (FAM125A) knockout HeLa cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
MVB12A KO cell line available to order. KO validated by. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, 1 bp insertion in exon 1 and 40 bp deletion 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.
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 1 bp insertion in exon 1 and 40 bp deletion in exon 1,
Disease:Adenocarcinoma

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-MVB12A, 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

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
FAM125A also known as MVB12A is a protein involved in the endosomal sorting complex required for transport particularly the ESCRT-I complex. It is about 26 kDa in mass and plays a role in cargo recognition during the sorting process. FAM125A is expressed in many tissues including the central nervous system indicating its wide functional relevance.
Biological function summary
FAM125A participates in the ESCRT machinery which is essential for the regulation of endosomal trafficking. It associates with other proteins such as TSG101 within the ESCRT-I complex facilitating the sorting of ubiquitinated membrane proteins into multivesicular bodies. This activity is vital for processes like receptor down-regulation and virus budding indicating its significant involvement in cellular homeostasis.
Pathways
FAM125A significantly engages in the endocytic and lysosomal degradation pathways. It works closely with ESCRT-I complex partners such as VPS37 and TSG101 aiding in membrane remodeling and protein trafficking. The ESCRT pathway is important for maintaining proper cell signaling and membrane composition linking FAM125A functionally to cellular maintenance and response processes.
FAM125A has associations with neurogenerative conditions and certain cancers. Disrupted endosomal sorting might contribute to pathological states where protein aggregation or receptor recycling is impaired such as in Alzheimer's disease. Additionally FAM125A and ESCRT-related proteins like VPS37 may play roles in tumor progression and metastasis as proper endosome function is necessary to control cell division and migration signals.