基因名:
PRDM16
产品别名:
CMD1LL; KMT8F; LVNC8; MEL1; PFM13; PRDM16; PR/SET domain 16; PR/SET domain 16; histone-lysine N-methyltransferase PRDM16; MDS1/EVI1-like gene 1; PR domain 16; PR domain containing 16; PR domain zinc finger protein 16; transcription factor MEL1; PRDM锌指转录因子PRDM16; 含PR域蛋白16(PRDM16); 转录因子MEL1;
背景信息:
The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene 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, Jul 2008]