HIF3A Chromosome 19
Hypoxia inducible factor 3 subunit alpha
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What This Gene Does
The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|PAS domain containing"
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000124440
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200007011 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS58016109 | Health Risk | Conflicting classifications of pathogenicity | — |