UQCRFS1 Chromosome 19

Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

3 variants 3 Health Risk

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What This Gene Does

Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits

Locus Type

gene with protein product

Location

19q12

Ensembl

ENSG00000169021

Associated Conditions (5)

Propionic acidemia

Cardiomyopathy

Lactic acidosis

Mitochondrial complex III deficiency

nuclear type 10

Key Variants

RS1242465339

Pathogenic

Propionic acidemia, Cardiomyopathy, Lactic acidosis

Health Risk

RS1568344751

Pathogenic

Propionic acidemia, Cardiomyopathy, Lactic acidosis

Health Risk

RS1568346416

Pathogenic

Cardiomyopathy, Mitochondrial complex III deficiency, nuclear type 10

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1242465339	Health Risk	Pathogenic	Propionic acidemia, Cardiomyopathy, Lactic acidosis
RS1568344751	Health Risk	Pathogenic	Propionic acidemia, Cardiomyopathy, Lactic acidosis
RS1568346416	Health Risk	Pathogenic	Cardiomyopathy, Mitochondrial complex III deficiency, nuclear type 10