RMRP RNA component of mitochondrial RNA processing endoribonuclease
Gene ID: 6023, updated on 4-Jan-2025Gene type: ncRNA
Also known as: CHH; NME1; RRP2; RMRPR
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- Go to complete Gene record for RMRP
- Go to Variation Viewer for RMRP variants
Summary
This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anauxetic dysplasia 1 MedGen: C4551965OMIM: 607095GeneReviews: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders | See labs |
| Metaphyseal chondrodysplasia, McKusick type MedGen: C0220748OMIM: 250250GeneReviews: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders | See labs |
| Metaphyseal dysplasia without hypotrichosis MedGen: C1834821OMIM: 250460GeneReviews: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders | See labs |
Genomic context
- Location:
- 9p13.3
- Sequence:
- Chromosome: 9; NC_000009.12 (35657750..35658019, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RMRP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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