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Reviewed December 2014
What is the official name of the C10orf2 gene?
The official name of this gene is “chromosome 10 open reading frame 2.”
C10orf2 is the gene's official symbol. The C10orf2 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 C10orf2 gene?
The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures in which a process called oxidative phosphorylation occurs to convert the energy from food into a form that cells can use.
Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. It functions as a mitochondrial DNA helicase, which means it binds to DNA and temporarily unwinds the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) mtDNA. The function of the Twinky protein is unknown.
How are changes in the C10orf2 gene related to health conditions?
Where is the C10orf2 gene located?
Cytogenetic Location: 10q24
Molecular Location on chromosome 10: base pairs 100,987,535 to 100,994,401
The C10orf2 gene is located on the long (q) arm of chromosome 10 at position 24.
More precisely, the C10orf2 gene is located from base pair 100,987,535 to base pair 100,994,401 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about C10orf2?
You and your healthcare professional may find the following resources about C10orf2 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 C10orf2 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 C10orf2?
acids ; amino acid ; ataxia ; cell ; chromosome ; cysteine ; depletion ; developmental delay ; DNA ; DNA replication ; double helix ; dysarthria ; gene ; helicase ; hypotonia ; mitochondria ; molecule ; muscle tone ; mutation ; nervous system ; neurological ; neuropathy ; open reading frame ; ophthalmoplegia ; ovarian ; oxidative phosphorylation ; peripheral ; peripheral neuropathy ; phosphorylation ; protein ; ptosis ; reading frame ; recessive ; spectrum ; syndrome ; tissue ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.