Puneet Varma (Editor)

RMRP

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External IDs
  
GeneCards: RMRP

Human
  
Mouse

Ensembl
  
ENSG00000269900

Species
  
Human

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