Mitochondria Phenome Knowledgebase

Gene Symbol UQCRB
Ensembl ID ENSG00000156467 Entrez 7381
Gene Alias QP-C; QPC; UQBC; UQBP; UQPC Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 8q22 Subcell PMIDs 12709789
OMIM Gene 191330 Protein Complex Respiratory chain complex III (RCCIII)
Swissprot ID P14927 Swissprot Description Ubiquinol-cytochrome c reductase complex 14 kDa protein
OMIM Disease Deficiency of respiratory chain complex III (RCC3) [124000]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
UQCRB 124000 Digestive-system-diseases gastrointestinal #12709789
UQCRB 124000 Gastrointestinal-diseases gastrointestinal #12709789
UQCRB 124000 Gastroenteritis acute gastroenteritis gastrointestinal 12709789
UQCRB 124000 Liver-diseases gastrointestinal #12709789
UQCRB 124000 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 12709789
UQCRB 124000 Hepatomegaly moderate; disappeared progressively gastrointestinal 12709789
UQCRB 124000 Respiratory-tract-diseases respiratory #12709789
UQCRB 124000 Respiration-disorders respiratory #12709789
UQCRB 124000 Hyperventilation tachypnea respiratory 12709789
UQCRB 124000 Metabolic-diseases metabolic #12709789
UQCRB 124000 Acid-base-imbalance metabolic #12709789
UQCRB 124000 Acidosis metabolic acidosis; lactic acidosis; hyperlactatemia metabolic 12709789
UQCRB 124000 Hypoketosis ketogenesis impaired metabolic 12709789
UQCRB 124000 Glucose-metabolism-disorders metabolic #12709789
UQCRB 124000 Hypoglycemia episodes metabolic 12709789
UQCRB 124000 Aminoaciduria alanine elevated metabolic 12709789
UQCRB 124000 Water-electrolyte-imbalance metabolic #12709789
UQCRB 124000 Dehydration mild metabolic 12709789
UQCRB 124000 RCCIII-deficiency liver; lymphocytes; fibroblasts miscellaneous 12709789

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