KAT2A Chromosome 17

Lysine acetyltransferase 2A
1 variant 1 Health Risk

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What This Gene Does
KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]
Gene Info
Gene Group
"Lysine acetyltransferases|ATAC complex|SAGA complex|GCN5 related N-acetyltransferases|Bromodomain containing"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000108773
Associated Conditions (1)
See cases
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2544066740 Health Risk Likely pathogenic See cases, See cases
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