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We conclude that the common clinical features of patients with an isolated mutation of ZRSR2 are a macrocytic anemia (show TCN2 Proteins) without leukopenia, thrombocytopenia or an increase in marrow blast percentage
ZRSR2 has a role in RNA splicing; dysregulated splicing of U12-type introns is a characteristic feature of ZRSR2 mutations in myelodysplastic syndrome
The mutational status of the SRSF2 (show SRSF2 Proteins), U2AF1 (show U2AF1 Proteins) and ZRSR2 did not affect the response rate or survival in MDS (show PAFAH1B1 Proteins) patients who had received first-line decitabine treatment.
In univariate analysis, mutated SRSF2 (show SRSF2 Proteins) predicted shorter overall survival and more frequent acute myeloid leukemia (show BCL11A Proteins) progression compared with wild-type SRSF2 (show SRSF2 Proteins), whereas mutated U2AF1 (show U2AF1 Proteins), ZRSR2 had no impact on patient outcome.
Data show that through recognition of a common splicing element, Urp facilitates distinct steps of U2- and U12-type intron splicing.
This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly.
zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2
, U2 small nuclear RNA auxiliary factor 1-like 2
, U2 small nuclear ribonucleoprotein auxiliary factor (U2AF), 35 kDa, related sequence 2
, U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2
, U2(RNU2) small nuclear RNA auxiliary factor 1-like 2
, U2AF35-related protein
, U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2
, renal carcinoma antigen NY-REN-20