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UQCRB

Synonyms
MC3DN3, QCR7, QP-C, QPC, UQBC, UQBP, UQCR6, UQPC
External resources
Summary
This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
19
Likely pathogenic
0
VUS
1,972
Likely benign
1,428
Benign
58

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on UQCRB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
47.4%
Abnormality of the nervous system
47.4%
Neoplasm
21.1%
Abnormality of head or neck
15.8%
Abnormality of blood and blood-forming tissues
10.5%
Abnormality of the endocrine system
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of the immune system
10.5%
Abnormality of the musculoskeletal system
10.5%
Abnormality of limbs
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the ear
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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