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RMRP

From Wikipedia, the free encyclopedia
RMRP
Identifiers
AliasesRMRP, CHH, NME1, RMRPR, RRP2, RNA component of mitochondrial RNA processing endoribonuclease
External IDsOMIM: 157660; GeneCards: RMRP; OMA:RMRP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)Chr 9: 35.66 – 35.66 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.[3]

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 RMRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM][3]

It is associated with cartilage–hair hypoplasia.[4]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000269900Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b "Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease".
  4. ^ Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S (2006). "Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia". Journal of Human Genetics. 51 (8): 706–10. doi:10.1007/s10038-006-0015-3. PMID 16832578.

Further reading

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