USB1 Antibody - N-terminal region

Polyclonal Antibody

Wet Ice

Human

U6 snRNA biogenesis phosphodiesterase 1

Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

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.

NP_001182231.1

Polyclonal

The immunogen is a synthetic peptide directed towards the N terminal region of human C16ORF57