SQOR Chromosome 15

Sulfide quinone oxidoreductase
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000137767
Associated Conditions (1)
Sulfide quinone oxidoreductase deficiency
Key Variants
RS755490059
Pathogenic
Sulfide quinone oxidoreductase deficiency, Sulfide quinone oxidoreductase deficiency
Health Risk
RS762256045
Pathogenic
Sulfide quinone oxidoreductase deficiency, Sulfide quinone oxidoreductase deficiency
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS755490059 Health Risk Pathogenic Sulfide quinone oxidoreductase deficiency, Sulfide quinone oxidoreductase deficiency
RS762256045 Health Risk Pathogenic Sulfide quinone oxidoreductase deficiency, Sulfide quinone oxidoreductase deficiency
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