Gene Symbol | PRDM16 |
Entrez Gene ID | 63976 |
Full Name | PR/SET domain 16 |
Synonyms | CMD1LL,KMT8F,LVNC8,MEL1,PFM13 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Left ventricular noncompaction 8, 615373 (3); Cardiomyopathy, dilated, 1LL, 615373 (3) |