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Genetics Home Reference: your guide to understanding genetic conditions
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C19orf12

Reviewed April 2014

What is the official name of the C19orf12 gene?

The official name of this gene is “chromosome 19 open reading frame 12.”

C19orf12 is the gene's official symbol. The C19orf12 gene is also known by other names, listed below.

What is the normal function of the C19orf12 gene?

The C19orf12 gene provides instructions for making a protein whose function is unknown. The protein is found in the membrane of cellular structures called mitochondria, which are the cell's energy-producing centers. Researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (lipid) molecules, a process known as lipid homeostasis.

How are changes in the C19orf12 gene related to health conditions?

mitochondrial membrane protein-associated neurodegeneration - caused by mutations in the C19orf12 gene

At least 28 mutations in the C19orf12 gene have been found to cause a condition known as mitochondrial membrane protein-associated neurodegeneration (MPAN), which is characterized by movement and neurological problems that gradually worsen. Affected individuals also have an abnormal accumulation of iron in certain regions of the brain. The gene mutations that cause this condition change single protein building blocks (amino acids) in the C19orf12 protein or lead to an abnormally short protein. These changes likely reduce or eliminate the function of the protein. One C19orf12 gene mutation, which deletes 11 DNA building blocks (nucleotides) from the gene, is found in people of Polish descent who have the condition. This genetic change leads to production of an abnormally short protein, which is quickly broken down. It is unclear how loss of C19orf12 protein function leads to the signs and symptoms of MPAN. Researchers are working to determine whether there is a link between problems with lipid homeostasis and brain iron accumulation or how these abnormalities might contribute to the features of this disorder.

C19orf12 gene mutations can cause a spectrum of related conditions with some but not all of the characteristic features of MPAN. For example, some affected individuals have movement problems such as muscle stiffness (spasticity) but not iron accumulation in the brain; these individuals are considered to have a condition called hereditary spastic paraplegia type 43.

Where is the C19orf12 gene located?

Cytogenetic Location: 19q12

Molecular Location on chromosome 19: base pairs 29,698,885 to 29,715,788

The C19orf12 gene is located on the long (q) arm of chromosome 19 at position 12.

The C19orf12 gene is located on the long (q) arm of chromosome 19 at position 12.

More precisely, the C19orf12 gene is located from base pair 29,698,885 to base pair 29,715,788 on chromosome 19.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about C19orf12?

You and your healthcare professional may find the following resources about C19orf12 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 C19orf12 gene or gene products?

  • NBIA3
  • NBIA4
  • protein C19orf12
  • SPG43

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding C19orf12?

acids ; cell ; chromosome ; DNA ; gene ; hereditary ; homeostasis ; iron ; lipid ; mitochondria ; mutation ; neurological ; open reading frame ; paraplegia ; protein ; reading frame ; spasticity ; spectrum

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: CHROMOSOME 19 OPEN READING FRAME 12 (http://omim.org/entry/614297)
  • Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15. (http://www.ncbi.nlm.nih.gov/pubmed/22584950?dopt=Abstract)
  • Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, Walker RH, Paisán-Ruiz C. Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. Clin Genet. 2013 Oct;84(4):350-5. doi: 10.1111/cge.12079. Epub 2013 Jan 21. (http://www.ncbi.nlm.nih.gov/pubmed/23278385?dopt=Abstract)
  • Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. (http://www.ncbi.nlm.nih.gov/pubmed/21981780?dopt=Abstract)
  • Kruer MC, Salih MA, Mooney C, Alzahrani J, Elmalik SA, Kabiraj MM, Khan AO, Paudel R, Houlden H, Azzedine H, Alkuraya F. C19orf12 mutation leads to a pallido-pyramidal syndrome. Gene. 2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17. (http://www.ncbi.nlm.nih.gov/pubmed/24361204?dopt=Abstract)
  • Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. (http://www.ncbi.nlm.nih.gov/pubmed/23857908?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83636)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2014
Published: December 16, 2014