Abcam, ab266368, Human UFSP2 knockout HEK-293T cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
UFSP2 KO cell line available to order. KO validated by Western blot. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp deletion in exon 6. 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: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: 1 bp deletion in exon 6

Product details:
We will provide viable cells that proliferate on revival.
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-UFSP2, 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.
UFSP2 also known as Ubiquitin-Fold Modifier 1-Specific Peptidase 2 is a protein with a molecular mass of approximately 53 kDa. This protein functions as a cysteine protease involved in the processing and maturation of ubiquitin-fold modifier 1 (UFM1). UFSP2 cleaves precursor UFM1 to expose the glycine residue necessary for its conjugation to target proteins. Expression of UFSP2 occurs in various tissues but is particularly high in the testis brain and skeletal muscle indicating its roles in diverse biological functions.
Biological function summary
UFSP2 plays a significant role in the UFMylation pathway which is a post-translational modification process involving UFM1. This enzyme does not operate alone; it acts as part of a functional complex where its peptidase activity is essential for recycling UFM1 molecules after they detach from substrate proteins. The activation and deactivation of UFM1-modified proteins regulate several cellular processes such as protein translation cellular stress responses and maintenance of endoplasmic reticulum homeostasis.
Pathways
The UFSP2 protein contributes to the wider ubiquitin-like modification systems particularly impacting the protein quality control system and the endoplasmic reticulum-associated degradation (ERAD) pathway. It maintains protein folding and ensures degradation of misfolded proteins. UFSP2 interacts with other proteins such as UFL1 which acts as a specific E3 ligase for UFM1 establishing a cycle for efficient modification and de-modification in these pathways.
Alterations in UFSP2 function link to pathologies including autosomal-dominant osteosclerosis with the novel symptom of cranial sclerosis (ADOCS). Mutations in the UFSP2 gene can lead to defective bone formation due to dysregulation of protein homeostasis pathways. Furthermore anomalies in UFSP2 have associations with neurodegenerative diseases where it interacts with proteins involved in cellular stress responses. This highlights its importance in both skeletal and nervous system-related disorders.