NCOA3 Chromosome 20
Nuclear receptor coactivator 3
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What This Gene Does
The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing"
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000124151
Associated Conditions (1)
Bilateral sensorineural hearing impairment
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142951578 | Health Risk | Pathogenic | Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment |