PRDM16, Official Symbol PRDM16provided by HGNC Official Full Name PR/SET domain 16provided by HGNC Primary source HGNC:HGNC:14000 See related Ensembl:ENSG00000142611 MIM:605557; AllianceGenome:HGNC:14000 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MEL1; KMT8F; LVNC8; PFM13; CMD1LL Summary 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] Expression Broad expression in stomach (RPKM 3.4), thyroid (RPKM 3.1) and 17 other tissues See more Orthologs mouse all