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RMP24

Chr 18

ribonuclease MRP subunit p24

Also known as: C18orf21, HsT3108, PNAS-124, PNAS-131, XTP13

NCBI Gene: 83608 UniProt: Q32NC0 OMIM: 621218

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.

OMIM ResearchSummary from UniProt

Predicted to enable RNA binding activity. Involved in RNA processing. Located in nucleus. Part of ribonuclease MRP complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/RMP24?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in RMP24?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 290

290 rare PASS variants

Rare truncating (LoF)

1 in 2,700

64 rare PASS variants

Rare synonymous (reference)

1 in 880

98 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RMP24. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 610	1 in 2,600
South Asian	~43k	1 in 170	1 in 1,200
Remaining (unassigned)	~30k	1 in 350	1 in 4,300
European (Finnish)	~27k	1 in 2,400	none seen
Admixed American	~22k	1 in 300	1 in 2,800
African / African American	~21k	1 in 230	1 in 1,700
East Asian	~20k	1 in 190	1 in 2,000
Ashkenazi Jewish	~13k	≈ 1 in 6,500	none seen
Middle Eastern	~2,884	1 in 580	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.