RMRP
Chr 9ARRNA component of mitochondrial RNA processing endoribonuclease
Also known as: CHH, NME1, RMRPR, RRP2
This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at DNA replication priming sites and also forms a ribonucleoprotein complex with telomerase that produces double-stranded RNAs processed into small interfering RNAs. Mutations cause cartilage-hair hypoplasia, anauxetic dysplasia, and metaphyseal dysplasia without hypotrichosis, all involving skeletal dysplasia with variable hair abnormalities. Inheritance is autosomal recessive.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 77 | 0 | 77 |
Likely Pathogenic | 0 | 0 | 75 | 0 | 75 |
VUS | 0 | 0 | 230 | 0 | 230 |
Likely Benign | 0 | 0 | 8 | 0 | 8 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 10 | |||
| Total | 0 | 0 | 390 | 0 | 400 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RMRP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools