PRDM16 / MEL1

GWB-A9E792

Peptide with sequence C-TSESGAFHPINHL from the C Terminus of the Notes: Peptide ELISA: > 1:32000. Western Blot: No signal obtained yet but low background observed in Raji Daudi MOLT-4 and human brain lysates at up to 2ug/ml. Summary: The reciprocal translocation t(1; 3)(p36; q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This protein is located near the 1p36. 3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36 q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq]. [1] Deluche L. Joha S. Corm S. Daudignon A. Geffroy S. Quief S. Villenet C. Kerckaert J. P. Lai J. L. Preudhomme C. and et al. Cryptic and partial deletions of PRDM16 and RUNX1 without t(1; 21)(p36; q22) and/or RUNX1-PRDM16 fusion in a case of progressive chronic myeloid leukemia: a complex chromosomal rearrangement of underestimated frequency in disease progression?[2] Roche-Lestienne C. Deluche L. Corm S. Tigaud I. Joha S. Philippe N. Geffroy S. Lai J. L. Nicolini F. E. and Preudhomme C. et al. RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance[3] Stevens-Kroef M. J. Schoenmakers E. F. van Kraaij M. Huys E. Vermeulen S. van der Reijden B. and van Kessel A. G. Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1; 21)(p36; q22)-positive therapy-related AML[4] Stiffler M. A. Grantcharova V. P. Sevecka M. and MacBeath G. et al. Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays[5] Ott M. G. Schmidt M. Schwarzwaelder K. Stein S. Siler U. Koehl U. Glimm H. Kuhlcke K. Schilz A. Kunkel H. Naundorf S. et al. Correction of X-linked chronic granulomatous disease by gene therapy augmented by insertional activation of MDS1-EVI1 PRDM16 or SETBP1