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RMRP

MIM.157660 9p21-p12

Wednesday 9 February 2005

The RMRP gene encodes the untranslated RNA component of the mitochondrial RNA-processing ribonuclease, RNase MRP.

Mitochondrial RNA-processing endoribonuclease cleaves mitochondrial RNA complementary to the light chain of the displacement loop at a unique site.

The enzyme is a ribonucleoprotein whose RNA component RMRP is a nuclear gene product. The RNA component RMRP 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.

Pathology

- germline mutations in

  • cartilage-hair hypoplasia (MIM.250250)
  • metaphyseal dysplasia without hypotrichosis (MIM.250460)
  • anauxetic dysplasia (MIM.607095)

References

- Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 Sep;81(3):519-29. PMID: #17701897#