Gene: SETDB1

Alternate names for this Gene: ESET|H3-K9-HMTase4|KG1T|KMT1E|TDRD21

Gene Summary: This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: SET domain bifurcated histone lysine methyltransferase 1

Type of Gene: protein-coding

rs2867296 in SETDB1 gene and Blood Protein Measurement PMID 31320639 2019 Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.