RMRP

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RNA component of mitochondrial RNA processing endoribonuclease
Identifiers
Symbols RMRP ; CHH; NME1; RMRPR; RRP2
External IDs OMIM157660 GeneCards: RMRP Gene
Orthologs
Species Human Mouse
Entrez 6023 n/a
Ensembl ENSG00000199916 n/a
UniProt n/a n/a
RefSeq (mRNA) NR_003051 n/a
RefSeq (protein) n/a n/a
Location (UCSC) Chr 9:
35.66 – 35.66 Mb
n/a
PubMed search [1] n/a

RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.[1]

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][1]

It is associated with Cartilage–hair hypoplasia.[2]

References[edit]

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

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