BCS1L
BCS1L
BCS1L (pronounced as "B-C-S-One-L") is a gene that provides instructions for making a protein that is found in mitochondria, the energy-producing centers within cells.
Etymology
The term BCS1L is an abbreviation for BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone. The name is derived from the function of the protein that this gene encodes.
Function
The BCS1L protein is involved in the final stages of assembly of an enzyme called Cytochrome c reductase, which is necessary for normal mitochondrial function. This enzyme is part of a group of proteins known as the Respiratory chain that are involved in oxidative phosphorylation, the major process that cells use to make ATP, the cell's main source of energy.
Related Terms
- Mitochondria - The energy-producing centers within cells.
- Cytochrome c reductase - An enzyme necessary for normal mitochondrial function.
- Respiratory chain - A group of proteins involved in oxidative phosphorylation.
- ATP - The cell's main source of energy.
Disorders
Mutations in the BCS1L gene can cause BCS1L-related disorders, which include GRACILE syndrome, Björnstad syndrome, and Mitochondrial complex III deficiency, nuclear type 1. These conditions can affect many parts of the body, including the nervous system, liver, and kidneys.
See Also
- Gene - A distinct sequence of nucleotides forming part of a chromosome.
- Protein - A molecule composed of polymers of amino acids joined together by peptide bonds.
External links
- Medical encyclopedia article on BCS1L
- Wikipedia's article - BCS1L
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