t(1;3)(p36;q21)易位發生在骨髓增生異常綜合征(mds)和急性髓系白血病(aml)的一個子集。該基因位于1p36.3斷裂點附近,在t(1:3)(p36,q21)陽性mds/aml中特異表達。該基因編碼的蛋白是鋅指轉錄因子,含有一個n端pr結構域。這種易位導致缺乏pr結構域的截短型蛋白的過度表達,可能在mds和aml的發病機制中起重要作用。另外,已經報道了編碼不同亞型的剪接轉錄變體。
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.