RMRP

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Identifiers
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External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.

Mitochondrial RNA-processing endoribonuclease cleaves mitochondrial RNA complementary to the light chain of the displacement loop at a unique site (Chang and Clayton, 1987). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RNRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM]

It is associated with cartilage–hair hypoplasia.

Further reading

• Topper JN, Bennett JL, Clayton DA (1992). "A role for RNAase MRP in mitochondrial RNA processing". Cell. 70 (1): 16–20. doi:10.1016/0092-8674(92)90529-L. PMID 1623519.
• Chang DD, Clayton DA (1987). "A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication". EMBO J. 6 (2): 409–17. PMC 553411. PMID 3582365.
• van Eenennaam H, Pruijn GJ, van Venrooij WJ (1999). "hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes". Nucleic Acids Res. 27 (12): 2465–72. doi:10.1093/nar/27.12.2465. PMC 148449. PMID 10352175.
• Ridanpää M, van Eenennaam H, Pelin K, et al. (2001). "Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia". Cell. 104 (2): 195–203. doi:10.1016/S0092-8674(01)00205-7. PMID 11207361.
• Bonafé L, Schmitt K, Eich G, et al. (2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms". Clin. Genet. 61 (2): 146–51. doi:10.1034/j.1399-0004.2002.610210.x. PMID 11940090.
• Ridanpää M, Sistonen P, Rockas S, et al. (2003). "Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP". Eur. J. Hum. Genet. 10 (7): 439–47. doi:10.1038/sj.ejhg.5200824. PMID 12107819.
• Welting TJ, van Venrooij WJ, Pruijn GJ (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex". Nucleic Acids Res. 32 (7): 2138–46. doi:10.1093/nar/gkh539. PMC 407822. PMID 15096576.
• Bonafé L, Dermitzakis ET, Unger S, et al. (2006). "Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations". PLoS Genet. 1 (4): e47. doi:10.1371/journal.pgen.0010047. PMC 1262189. PMID 16244706.
• Thiel CT, Horn D, Zabel B, et al. (2006). "Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator". Am. J. Hum. Genet. 77 (5): 795–806. doi:10.1086/497708. PMC 1271388. PMID 16252239.
• Hermanns P, Bertuch AA, Bertin TK, et al. (2006). "Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia". Hum. Mol. Genet. 14 (23): 3723–40. doi:10.1093/hmg/ddi403. PMID 16254002.
• Hirose Y, Nakashima E, Ohashi H, et al. (2006). "Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia". J. Hum. Genet. 51 (8): 706–10. doi:10.1007/s10038-006-0015-3. PMID 16832578.
• Hermanns P, Tran A, Munivez E, et al. (2006). "RMRP mutations in cartilage-hair hypoplasia". Am. J. Med. Genet. A. 140 (19): 2121–30. doi:10.1002/ajmg.a.31331. PMID 16838329.
• Graf SA, Calado RT, Kajigaya S, Young NS (2007). "RMRP mutations in hematological disorders". Clin. Genet. 71 (5): 468–70. doi:10.1111/j.1399-0004.2007.00776.x. PMID 17489853.
• Thiel CT, Mortier G, Kaitila I, et al. (2007). "Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum". Am. J. Hum. Genet. 81 (3): 519–29. doi:10.1086/521034. PMC 1950841. PMID 17701897.

External links

• RMRP,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• GeneReviews/NCBI/NIH/UW entry on Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders