Ensembl ENSG00000269900 | Entrez 6023 | |
Aliases RMRP, CHH, NME1, RMRPR, RRP2, RNA component of mitochondrial RNA processing endoribonuclease |
RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.
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]
It is associated with cartilage–hair hypoplasia.
References
RMRP Wikipedia(Text) CC BY-SA