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C18ORF21

Chr 18

ribonuclease MRP subunit p24

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

NCBI Gene: 83608 UniProt: Q32NC0 OMIM: 621218

This protein is a specific component of the MRP ribonucleoprotein endoribonuclease complex that processes precursor ribosomal RNA. Mutations cause autosomal recessive primary microcephaly, typically presenting in infancy with severe intellectual disability and growth retardation. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected families.

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

1.55

LOEUF

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Mechanism

Some data sources returned errors (1)