C16orf57 (USB1) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	WB,1:500 - 1:2000
Reactivity	Human, Mouse
Modifications	Unmodified
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant fusion protein containing a sequence corresponding to amino acids 1-265 of human USB1 (NP_078874.2).
Formulation	Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	20kDa/28kDa/30kDa
Gene Name	U6 snRNA biogenesis phosphodiesterase 1
Database Link	Entrez Gene 79650 Human UniProt ID Q9BQ65
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.
Synonyms	AA960436; RGD1305215
Reference Data

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