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| Reactivity: | Human, Mouse |
| Applications: | WB, ELISA |
| Host Species: | Rabbit |
| Clonality: | Polyclonal antibody |
| Gene Name: | U6 snRNA biogenesis phosphodiesterase 1 |
| Gene Symbol: | USB1 |
| Synonyms: | PN; Mpn1; HVSL1; hMpn1; hUsb1; C16orf57; USB1 |
| Gene ID: | 79650 |
| UniProt ID: | Q9BQ65 |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-265 of human USB1 (NP_078874.2). |
| Dilution: | WB 1:500-1:2000 |
| Purification Method: | Affinity purification |
| Concentration: | 2.17 mg/ml |
| Buffer: | PBS with 0.01% thimerosal, 50% glycerol, pH7.3. |
| Storage: | Store at -20°C. Avoid freeze/thaw cycles. |
| Documents: | Manual-USB1 antibody |
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.
Images
 | Western blot analysis of various lysates using USB1 Rabbit pAb (A13229) at 1:3000 dilution. Secondary antibody: HRP-conjugated Goat anti-Rabbit IgG (H+L) (AS014) at 1:10000 dilution. Lysates/proteins: 25μg per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 180s. |
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