Wednesday 9 February 2005
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.
germline mutations in
- cartilage-hair hypoplasia (MIM.250250)
- metaphyseal dysplasia without hypotrichosis (MIM.250460)
- anauxetic dysplasia (MIM.607095)
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