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RMRP

RMRP

Reviewed November 2008

What is the official name of the RMRP gene?

The official name of this gene is “RNA component of mitochondrial RNA processing endoribonuclease.”

RMRP is the gene's official symbol. The RMRP 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 RMRP gene?

Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. This RNA attaches (binds) to several proteins, forming an enzyme called mitochondrial RNA-processing endoribonuclease, or RNase MRP.

The RNase MRP enzyme is thought to be involved in several important processes in the cell. For example, it likely helps copy (replicate) the DNA found in the energy-producing centers of cells (mitochondria). The RNase MRP enzyme probably also processes ribosomal RNA, which is required for assembling protein building blocks (amino acids) into functioning proteins. In addition, this enzyme helps control the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion.

Does the RMRP gene share characteristics with other genes?

The RMRP gene belongs to a family of genes called small miscellaneous ncRNAs (small miscellaneous ncRNAs).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

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

cartilage-hair hypoplasia - caused by mutations in the RMRP gene

More than 50 mutations that cause cartilage-hair hypoplasia have been identified in the RMRP gene. Approximately 90 percent of cases of this disorder result from a mutation in which the DNA building block (nucleotide) guanine is substituted for the nucleotide adenine at position 70 in the RMRP gene (written as 70A>G). This mutation is found in almost all known affected individuals from the Amish population, approximately 92 percent of those of Finnish descent, and about half of those in other populations.

Mutations in the RMRP gene likely result in the production of a noncoding RNA that is unstable. This unstable molecule cannot bind to some of the proteins needed to make the RNase MRP enzyme complex. These changes are believed to affect the activity of the enzyme, which interferes with its important functions within cells. Disruption of the RNase MRP enzyme complex causes short stature (dwarfism), skeletal abnormalities, abnormal immune system function (immune deficiency), elevated cancer risk, sparse hair growth (hypotrichosis), and other signs and symptoms of cartilage-hair hypoplasia.

other disorders - caused by mutations in the RMRP gene

Mutations in the RMRP gene can cause other disorders that, like cartilage-hair hypoplasia, result in malformations near the ends of long bones in the arms and legs (metaphyseal dysplasia). RMRP gene mutations, including some of the same mutations that cause cartilage-hair hypoplasia, may result in a similar disorder known as metaphyseal dysplasia without hypotrichosis. This condition is characterized by short stature and skeletal abnormalities that are usually less pronounced than those seen in cartilage-hair hypoplasia. Individuals with metaphyseal dysplasia without hypotrichosis do not have any changes in the structure or appearance of their hair, but they may have immune deficiency and an increased risk of developing cancer. It is unknown why the same mutations may cause both these conditions.

Anauxetic dysplasia is caused by different RMRP mutations than those that cause cartilage-hair hypoplasia and metaphyseal dysplasia without hypotrichosis. People with anauxetic dysplasia have extreme short stature and severe skeletal abnormalities. This condition generally does not affect the immune system or the hair, but mild intellectual disability has been reported.

Where is the RMRP gene located?

Cytogenetic Location: 9p21-p12

Molecular Location on chromosome 9: base pairs 35,657,750 to 35,658,017

The RMRP gene is located on the short (p) arm of chromosome 9 between positions 21 and 12.

The RMRP gene is located on the short (p) arm of chromosome 9 between positions 21 and 12.

More precisely, the RMRP gene is located from base pair 35,657,750 to base pair 35,658,017 on chromosome 9.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about RMRP?

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

  • CHH
  • NME1
  • RMRPR
  • RRP2

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 RMRP?

acids ; adenine ; cancer ; cartilage ; cell ; cell cycle ; deficiency ; DNA ; dwarfism ; dysplasia ; enzyme ; gene ; guanine ; hypoplasia ; hypotrichosis ; immune system ; mitochondria ; molecule ; mutation ; nucleotide ; population ; protein ; ribosomal RNA ; RNA ; short stature ; stature

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (15 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.

 
Reviewed: November 2008
Published: April 7, 2014