||Recombinant human USB1 protein, fused to MYC/DDK tag at C-terminus, was expressed in HEK293.
||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. [provided by RefSeq, Mar 2011].
||25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10 % glycerol.
||> 80% as determined by SDS-PAGE and Coomassie blue staining
||>50 ug/mL as determined by microplate BCA method