C16orf57 (USB1) (NM_024598) Human Recombinant Protein
Product Specifications
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. [provided by RefSeq, Mar 2011]
Synonyms
C16orf57; hUsb1; HVSL1; Mpn1; PN
Gene ID
79650
UniProt
Q9BQ65, A0A024R6V6
Accession Number mRNA
NM_024598
Chromosomal Location
16q21
Expression System
HEK293T
Tag
C-Myc/DDK
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Molecular Weight
30.1 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
USB1
Species
Human
Protein ID
NP_078874
Overview
Recombinant protein of human chromosome 16 open reading frame 57 (C16orf57)
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/79650
Uniprot URL
https://www.uniprot.org/uniprot/Q9BQ65
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_024598
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_078874
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