RMRP

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RMRP
Identifiers
Aliases RMRP, CHH, NME1, RMRPR, RRP2, RNA component of mitochondrial RNA processing endoribonuclease
External IDs GeneCards: RMRP
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC) Chr 9: 35.66 – 35.66 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.[2]

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][2]

It is associated with cartilage–hair hypoplasia.[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ a b "Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease". 
  3. ^ 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. 

Further reading[edit]


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