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.
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by affinity chromatography.
Form：Supplied as a liquid in PBS, 2% sucrose, 0.09% sodium azide.
Specificity：Recognizes human C16ORF57.
Isotype：IgG
Calc Applications Abbrev：WB
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide corresponding to the N-terminal region of human C16ORF57
