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RMP24
Chr 18ribonuclease MRP subunit p24
Also known as: C18orf21, HsT3108, PNAS-124, PNAS-131, XTP13
RMP24 encodes a specific component of the MRP ribonucleoprotein endoribonuclease complex that processes pre-ribosomal RNA. Mutations cause cartilage-hair hypoplasia, an autosomal recessive disorder characterized by short-limbed dwarfism, fine sparse hair, and immunodeficiency. The condition typically presents in infancy with growth retardation and recurrent infections due to T-cell dysfunction.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/RMP24?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
44 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 41 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 44 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RMP24 · 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 →No open access results found
External Resources
Links to major genomics databases and tools