Pr Domain Zinc Finger Protein 16 (PRDM16) ELISA Kit for Human

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]

PRDM16: binds DNA and functions as a transcriptional regulator. A repressor of TGF-beta signaling. Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells. Interacts with HDAC1, SKI, SMAD2 and SMAD3; the interaction with SKI promotes the recruitment of SMAD3-HDAC1 complex on the promoter of TGF-beta target genes. A chromosomal aberration involving PRDM16 is found in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Reciprocal translocation t(1;3)(p36;q21). Isoform 4 is specifically expressed in adult T-cell leukemia. Four human isoforms are produced by alternative promoter usage and alternative splicing

Protein type: C2H2-type zinc finger protein; Methyltransferase, protein lysine, predicted

Chromosomal Location of Human Ortholog: 1p36.32

Cellular Component: cytosol; nucleoplasm; nucleus; transcriptional repressor complex

Molecular Function: activating transcription factor binding; histone-lysine N-methyltransferase activity; metal ion binding; protein binding; sequence-specific DNA binding; SMAD binding; transcription coactivator activity

Biological Process: brown fat cell differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; neurogenesis; palate development; positive regulation of transcription, DNA-templated; regulation of cellular respiration; somatic stem cell maintenance; tongue development; transcription, DNA-dependent; white fat cell differentiation

Disease: Left Ventricular Noncompaction 8