HDAC3 Chromosome 5

Histone deacetylase 3
2 variants 2 Health Risk

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What This Gene Does
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Histone deacetylases, class I|NCoR/SMRT transcriptional repression complex subunits"
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000171720
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1554216303 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554216308 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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