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Reviewed April 2014
What is the official name of the BCS1L gene?
The official name of this gene is “BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone.”
BCS1L is the gene's official symbol. The BCS1L 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 BCS1L gene?
The BCS1L gene provides instructions for making a protein that functions in cell structures called mitochondria, which convert the energy from food into a form that cells can use. The BCS1L protein is critical for the formation of a group of proteins known as complex III. Specifically, BCS1L adds a component called Rieske Fe/S protein to the complex. In mitochondria, complex III performs one step of the multistep process known as oxidative phosphorylation, in which oxygen and simple sugars are used to create adenosine triphosphate (ATP), the cell's main energy source.
As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues. The reactive oxygen species produced by complex III are thought to also play a role in normal cell signaling, particularly when levels of oxygen in the body are low (hypoxia).
Some researchers believe the BCS1L protein is involved in the breakdown (metabolism) of iron, although the mechanism is unknown.
Does the BCS1L gene share characteristics with other genes?
The BCS1L gene belongs to a family of genes called ATP (ATPases). It also belongs to a family of genes called mitochondrial respiratory chain complex assembly factors (mitochondrial respiratory chain complex assembly factors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the BCS1L gene related to health conditions?
Where is the BCS1L gene located?
Cytogenetic Location: 2q33
Molecular Location on chromosome 2: base pairs 218,659,656 to 218,663,443
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The BCS1L gene is located on the long (q) arm of chromosome 2 at position 33.
More precisely, the BCS1L gene is located from base pair 218,659,656 to base pair 218,663,443 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about BCS1L?
You and your healthcare professional may find the following resources about BCS1L 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 BCS1L gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 BCS1L?
adenosine triphosphate ; amino acid ; ATP ; breakdown ; cell ; chaperone ; coenzyme Q ; deficiency ; DNA ; electron ; encephalopathy ; gene ; glycine ; hypoxia ; iron ; kidney ; metabolism ; mitochondria ; mutation ; oxidative phosphorylation ; oxidoreductase ; oxygen ; phosphorylation ; protein ; reactive oxygen species ; serine ; syndrome ; synthesis
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
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.