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The official name of this gene is “polymerase (RNA) I polypeptide C, 30kDa.”
POLR1C is the gene's official symbol. The POLR1C gene is also known by other names, listed below.
The POLR1C gene provides instructions for making one part (subunit) of two related enzymes called RNA polymerase I and RNA polymerase III. These enzymes are involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. Both enzymes help synthesize a form of RNA known as ribosomal RNA (rRNA). RNA polymerase III also plays a role in the synthesis of several other forms of RNA, including transfer RNA (tRNA). Ribosomal RNA and transfer RNA assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells.
Based on its involvement in Treacher Collins syndrome (described below), the POLR1C gene appears to play a critical role in the early development of structures that become bones and other tissues of the face.
At least six mutations in the POLR1C gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face. These mutations appear to alter the structure and function of the POLR1C protein, which reduces the amount of functional RNA polymerase I and RNA polymerase III in cells. Consequently, less rRNA is produced. Researchers speculate that a shortage of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the early development of facial bones and tissues. The abnormal cell death could underlie the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.
Cytogenetic Location: 6p21.1
Molecular Location on chromosome 6: base pairs 43,484,776 to 43,489,250
The POLR1C gene is located on the short (p) arm of chromosome 6 at position 21.1.
More precisely, the POLR1C gene is located from base pair 43,484,776 to base pair 43,489,250 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about POLR1C helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; apoptosis ; cell ; DNA ; DNA-directed RNA polymerase ; gene ; neural crest ; protein ; ribonucleic acid ; ribosomal RNA ; ribosomes ; RNA ; RNA polymerase ; subunit ; syndrome ; synthesis ; transfer RNA ; tRNA
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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.