菜单 基因医生

t（1；3）（p36；q21）易位发生在骨髓增生异常综合征（mds）和急性髓系白血病（aml）的一个子集。该基因位于1p36.3断裂点附近，在t（1:3）（p36，q21）阳性mds/aml中特异表达。该基因编码的蛋白是锌指转录因子，含有一个n端pr结构域。这种易位导致缺乏pr结构域的截短型蛋白的过度表达，可能在mds和aml的发病机制中起重要作用。另外，已经报道了编码不同亚型的剪接转录变体[由RefSeq提供，2008年7月]
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]