Gene: PRDM16

Alternate names for this Gene: CMD1LL|KMT8F|LVNC8|MEL1|PFM13

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.32

Description of this Gene: PR/SET domain 16

Type of Gene: protein-coding

Gene: LOC105378606

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rs2075968 in PRDM16;LOC105378606 gene and Migraine Disorders PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 21666692 2011 The associations at rs2651899 and rs10166942 were specific for migraine compared with non-migraine headache.

PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.