Recombinant Human C16orf57, GST-tagged

• Cat.No.: C16orf57-10410H
• Product Overview: Recombinant Human C16orf57 protein, fused to GST-tag, was expressed in E.coli and purified by GSH-sepharose.

Specification

• Description: 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.
• Source: E.coli
• Species: Human
• Tag: GST
• Protein length: 1-265a.a.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.

Gene Information

• Gene Name: C16orf57 chromosome 16 open reading frame 57 [ Homo sapiens ]
• Official Symbol: C16orf57
• Synonyms: C16ORF57; chromosome 16 open reading frame 57; UPF0406 protein C16orf57; FLJ13154; HVSL motif containing 1; HVSL1; poikiloderma with neutropenia; PN
• Gene ID: 79650
• mRNA Refseq: NM_001195302
• Protein Refseq: NP_001182231
• MIM: 613276
• UniProt ID: Q9BQ65
• Chromosome Location: 16q13
• Function: molecular_function