RPP25L

Chr 9

ribonuclease P/MRP subunit p25 like

Also known as: C9orf23, bA296L22.5

NCBI Gene: 138716 ENSG00000164967 UniProt: Q8N5L8

This protein may function as a component of ribonuclease P or MRP, enzymes involved in RNA processing. Mutations in RPP25L cause autosomal recessive microcephaly, short stature, and intellectual disability. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

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Mechanism

Some data sources returned errors (1)

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