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UQCRB

UQCRB

The information on this page was automatically extracted from online scientific databases.

What is the official name of the UQCRB gene?

The official name of this gene is “ubiquinol-cytochrome c reductase binding protein.”

UQCRB is the gene's official symbol. The UQCRB gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the UQCRB gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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. [provided by RefSeq, Dec 2011]

From UniProtThis link leads to a site outside Genetics Home Reference.:

This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping.

NOTE: UniProtThis link leads to a site outside Genetics Home Reference. suggests using caution when interpreting this information.

How are changes in the UQCRB gene related to health conditions?

Genetics Home Reference provides information about mitochondrial complex III deficiency, which is associated with changes in the UQCRB gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the UQCRB gene's known or predicted involvement in human disease.

Mitochondrial complex III deficiency, nuclear 3 (MC3DN3): A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the UQCRB gene.
  • Mitochondrial complex III deficiency, nuclear type 3[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the UQCRB gene located?

Cytogenetic Location: 8q22

Molecular Location on chromosome 8: base pairs 96,226,675 to 96,235,633

The UQCRB gene is located on the long (q) arm of chromosome 8 at position 22.

The UQCRB gene is located on the long (q) arm of chromosome 8 at position 22.

More precisely, the UQCRB gene is located from base pair 96,226,675 to base pair 96,235,633 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about UQCRB?

You and your healthcare professional may find the following resources about UQCRB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the UQCRB gene or gene products?

  • MC3DN3
  • QCR7
  • QPC
  • QP-C
  • UQBC
  • UQBP
  • UQCR6
  • UQPC

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding UQCRB?

angiogenesis ; ataxia ; deficiency ; encephalopathy ; failure to thrive ; gene ; hypoxia ; oxidoreductase ; oxygen ; phenotype ; protein ; proton ; psychomotor ; reactive oxygen species ; renal ; respiratory ; subunit ; transcript ; ubiquinone

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: July 21, 2014