RMRP wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RMRP wild-type allele is located in the vicinity of 9p13.3 and is approximately 1 kb in length. This allele, which encodes RNA component of mitochondrial RNA processing endoribonuclease, is involved in mitochondrial RNA cleavage. Mutations in the gene are associated with cartilage-hair hypoplasia (CHH), anauxetic dysplasia 1 and metaphyseal dysplasia without hypotrichosis.

**Synonyms:** - CHH - Cartilage-Hair Hypoplasia Gene - Lnc-ARHGEF39-1 - Mitochondrial RNA-Processing Endoribonuclease RNA Gene - Mitochondrial RNA-Processing, Endoribonuclease, RNA Component of Gene - NME1 - NONHSAG052119.2 - RF00030 - RMRPR - RNA Component of Mitochondrial RNA Processing Endoribonuclease wt Allele - RRP2 - mrp RNA