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C16orf57 Protéines

(U6 SnRNA Biogenesis 1 (USB1))

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].

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C16orf57 Protein (AA 1-265) (His tag)

custom-made USB1 Origine: Humain Hôte: HEK-293 Cells Recombinant > 90 % as determined by Bis-Tris PAGE, anti-tag ELISA, Western Blot and analytical SEC (HPLC)

AlphaFold protein structure predicition of Human Recombinant USB1 Protein, UniprotID Q9BQ65

3 images

N° du produit ABIN7545053

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C16orf57 Protein (AA 1-265) (Strep Tag)

custom-made USB1 Origine: Humain Hôte: Cell-free protein synthesis (CFPS) Recombinant approximately 70-80 % as determined by SDS PAGE, Western Blot and analytical SEC (HPLC). ELISA, SDS, WB

N° du produit ABIN3075336