RMRP

RNA component of mitochondrial RNA processing endoribonuclease
Identifiers
Symbols	RMRP ; CHH; RMRPR
External IDs	Template:OMIM5
Gene ontology
Orthologs
Template:GNF Ortholog box
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

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]

Further reading

• Topper JN, Bennett JL, Clayton DA (1992). "A role for RNAase MRP in mitochondrial RNA processing". Cell. 70 (1): 16–20. PMID 1623519.CS1 maint: Multiple names: authors list (link)
• Chang DD, Clayton DA (1987). "A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication". EMBO J. 6 (2): 409–17. 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. PMID 10352175.CS1 maint: Multiple names: authors list (link)
• 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. PMID 11207361.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11940090.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15096576.CS1 maint: Multiple names: authors list (link)
• 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. PMID 16244706.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 16252239.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 17701897.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)