C16orf57 (USB1) Rabbit Polyclonal Antibody
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Other products for "USB1"
Specifications
Product Data | |
Applications | WB |
Recommended Dilution | WB,1:500 - 1:2000 |
Reactivities | Human, Mouse |
Modifications | Unmodified |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Recombinant fusion protein containing a sequence corresponding to amino acids 1-265 of human USB1 (NP_078874.2). |
Formulation | Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3. |
Concentration | lot specific |
Purification | Affinity purification |
Conjugation | Unconjugated |
Stability | Shelf life: one year from despatch. |
Predicted Protein Size | 20kDa/28kDa/30kDa |
Gene Name | U6 snRNA biogenesis phosphodiesterase 1 |
Database Link | |
Background | This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. |
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