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RMRP
RNA component of mitochondrial RNA processing endoribonuclease
The RMRP gene produces a noncoding RNA that is crucial for forming the RNase MRP enzyme, which is involved in mitochondrial DNA replication, ribosomal RNA processing, and cell cycle control. The RMRP gene provides instructions for creating a noncoding RNA molecule, rather than a protein.
RMRP is located on the short (p) arm of chromosome 9, at band 9p13.3. Arm ratio per GRCh38 - banding schematic.
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Clinical tests that include this
Overview
The RMRP gene (RNA component of mitochondrial RNA processing endoribonuclease) is unique because it does not code for a protein. Instead, it produces a noncoding RNA molecule that is essential for the formation of a complex enzyme called RNase MRP. This enzyme plays a fundamental role in several critical cellular functions, impacting cell growth and development. Variants in the RMRP gene are associated with inherited conditions primarily affecting skeletal development and other bodily systems.
What the gene does
The RMRP gene's primary function is to generate a noncoding RNA molecule. This RNA then acts as a scaffold, binding to multiple proteins to assemble the mitochondrial RNA-processing endoribonuclease, or RNase MRP enzyme. The RNase MRP enzyme is integral to various cellular activities. For instance, it is thought to participate in the replication of DNA located within the mitochondria, which are the cell's powerhouses. Furthermore, RNase MRP is involved in processing ribosomal RNA, a necessary step for the accurate assembly of proteins from amino acid building blocks. The enzyme also helps regulate the cell cycle, which is the organised process by which cells divide and replicate themselves.
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Chromosome location
The RMRP gene is located on the short arm of chromosome 9, specifically at position 9p13.3. This region of the human genome contains instructions for various biological functions, and its precise location helps define its role in inherited conditions.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Variants within the RMRP gene can affect the production or function of its noncoding RNA, subsequently impairing the activity of the RNase MRP enzyme. These genetic changes are typically inherited in an autosomal recessive pattern. The type and location of the variant often influence the specific clinical presentation and severity of associated conditions.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Variants in the RMRP gene are linked to a spectrum of inherited disorders, including Cartilage-Hair Hypoplasia and anauxetic dysplasia. These conditions primarily affect skeletal growth, leading to short stature and other bone abnormalities. RMRP gene variants can also result in metaphyseal dysplasia without hypotrichosis, which generally presents with less severe skeletal issues than Cartilage-Hair Hypoplasia.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic RMRP variants typically follow autosomal recessive inheritance.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
UK clinical status
The RMRP gene is included in several UK NHS national genomic testing panels, indicating its recognised clinical importance within the NHS Genomic Medicine Service. These panels include 'COVID-19 research', 'Cytopenia - NOT Fanconi anaemia', 'Cytopenias and congenital anaemias', 'DDG2P', 'Ectodermal dysplasia', 'Ectodermal dysplasia without a known gene mutation', 'Foetal anomalies', 'Haematological malignancies cancer susceptibility', 'Primary immunodeficiency or monogenic inflammatory bowel disease', and 'Skeletal dysplasia'.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is a noncoding RNA?
A noncoding RNA is an RNA molecule that does not provide instructions for making a protein. Instead, these RNA molecules have other functional roles in the cell, such as regulating gene expression or participating in enzymatic reactions, as seen with the RMRP gene.
How is the RMRP gene related to the RNase MRP enzyme?
The RMRP gene produces a specific noncoding RNA molecule. This RNA then combines with several proteins to form the active RNase MRP enzyme, which performs crucial functions within the cell, such as processing ribosomal RNA and helping with mitochondrial DNA replication.
What is autosomal recessive inheritance?
Autosomal recessive inheritance means a person must inherit two altered copies of a gene, one from each parent, to develop a genetic condition. Individuals with only one altered copy are typically carriers and usually do not show symptoms of the condition.
References
- Thiel CT, Rauch A. The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. Best practice & research. Clinical endocrinology & metabolism. 2011. PMID: 21396580
- Martin AN, Li Y. RNase MRP RNA and human genetic diseases. Cell research. 2007. PMID: 17189938
- Thiel CT, Mortier G, Kaitila I. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. American journal of human genetics. 2007. PMID: 17701897
- Hirose Y, Nakashima E, Ohashi H. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. Journal of human genetics. 2006. PMID: 16832578
- Hermanns P, Tran A, Munivez E. RMRP mutations in cartilage-hair hypoplasia. American journal of medical genetics. Part A. 2006. PMID: 16838329
- Thiel CT, Horn D, Zabel B. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. American journal of human genetics. 2005. PMID: 16252239
- Hermanns P, Bertuch AA, Bertin TK. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Human molecular genetics. 2005. PMID: 16254002
- Ridanpää M, Sistonen P, Rockas S. Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. European journal of human genetics : EJHG. 2002. PMID: 12107819
- Ridanpää M, van Eenennaam H, Pelin K. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001. PMID: 11207361