RMRP

Chr 9AR

RNA component of mitochondrial RNA processing endoribonuclease

NCBI Gene: 6023ENSG00000277027

Primary Disease Associations & Inheritance

Anauxetic dysplasia 1MIM #607095
AR
Cartilage-hair hypoplasiaMIM #250250
AR
Metaphyseal dysplasia without hypotrichosisMIM #250460
AR
926
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RMRP
📋
ClinVar Variants
926 total variants — no pathogenic classifications of 926 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

926 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

RMRP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

RMRP-related cartilage-hair hypoplasia

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersSkinSkeletal
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Anauxetic dysplasia 1

MIM #607095

Molecular basis of disorder known

Autosomal recessive

Cartilage-hair hypoplasia

MIM #250250

Molecular basis of disorder known

Autosomal recessive

Metaphyseal dysplasia without hypotrichosis

MIM #250460

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
M6A RNA methylation-mediated RMRP stability renders proliferation and progression of non-small cell lung cancer through regulating TGFBR1/SMAD2/SMAD3 pathway.
Yin H et al.·Cell Death Differ
2023
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
Kandolin M et al.·Am J Med Genet A
2024
Long noncoding RNA RMRP ameliorates doxorubicin-induced apoptosis by interacting with PFN1 in a P53-Dependent manner.
Li J et al.·Mol Cell Probes
2023
RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
Uchida N et al.·Am J Med Genet A
2024Review
Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Vakkilainen S et al.·Scand J Immunol
2020Review
lncRNA-RMRP promotes proliferation, migration and invasion of bladder cancer via miR-206.
Cao HL et al.·Eur Rev Med Pharmacol Sci
2019
Type II Alveolar Epithelial Cells Promote Sepsis-Induced Immunosuppression in Alveolar Macrophages via Exosomal lncRNA Rmrp Release.
Liu C et al.·Adv Sci (Weinh)
2026
RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.
Gao J et al.·Mol Med Rep
2025Case report
Long noncoding RNA RMRP promotes proliferation and invasion via targeting miR-1-3p in non-small-cell lung cancer.
Wang Y et al.·J Cell Biochem
2019
Ropivacaine suppresses the progression of renal cell carcinoma through regulating the lncRNA RMRP/EZH2/CCDC65 axis.
Xiong Y et al.·Daru
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
YTHDF2 alleviates diabetic cardiomyopathy by targeting m6A-mediated degradation of lncRNA RMRP and inhibiting NLRP3-dependent pyroptosis.
Xu Y et al.·Biochem Pharmacol
2026
Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
Portela Carvalho C et al.·BMJ Case Rep
2026
Human lncRNA RMRP interacts with DEAD-box helicases and modulates mitochondrial function.
Pereira HS et al.·Proc Natl Acad Sci U S A
2026🔓 Open AccessCohort
Olfactory Mucosa Mesenchymal Stem Cell-Derived Exosomal lncRNA RMRP Regulates Glial Metabolic Reprogramming to Promote Axonal Regeneration After Spinal Cord Injury by Inhibiting WTAP-Mediated p53 m6A.
Wang C et al.·FASEB J
2026
Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.
Lin S et al.·Medicine (Baltimore)
2026🔓 Open AccessCase report
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools