OTUD7A Chromosome 15
OTU deubiquitinase 7A
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What This Gene Does
The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"OTU domain containing|Zinc fingers A20-type"
Locus Type
gene with protein product
Location
15q13.3
Ensembl
ENSG00000169918
Associated Conditions (6)
Neurodevelopmental disorder
Specific learning disability
Language disorder
Epileptic encephalopathy
Severe global developmental delay
Neurodevelopmental disorder with hypotonia and seizures
Key Variants
RS1428047310
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1162953058
Pathogenic
Specific learning disability, Language disorder, Epileptic encephalopathy
Health Risk
RS2504476908
Pathogenic
Neurodevelopmental disorder with hypotonia and seizures, Neurodevelopmental disorder with hypotonia and seizures
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1428047310 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1162953058 | Health Risk | Pathogenic | Specific learning disability, Language disorder, Epileptic encephalopathy |
| RS2504476908 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and seizures, Neurodevelopmental disorder with hypotonia and seizures |