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Reviewed June 2012
What is the official name of the POLR1D gene?
The official name of this gene is “polymerase (RNA) I polypeptide D, 16kDa.”
POLR1D is the gene's official symbol. The POLR1D 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 POLR1D gene?
The POLR1D 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 POLR1D gene appears to play a critical role in the early development of structures that become bones and other tissues of the face.
How are changes in the POLR1D gene related to health conditions?
Where is the POLR1D gene located?
Cytogenetic Location: 13q12.2
Molecular Location on chromosome 13: base pairs 28,194,879 to 28,241,558
The POLR1D gene is located on the long (q) arm of chromosome 13 at position 12.2.
More precisely, the POLR1D gene is located from base pair 28,194,879 to base pair 28,241,558 on chromosome 13.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about POLR1D?
You and your healthcare professional may find the following resources about POLR1D 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 POLR1D 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 POLR1D?
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.
See also Understanding Medical Terminology.
References (5 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.