RRP1

Chr 21

ribosomal RNA processing 1

Also known as: D21S2056E, NNP-1, NOP52, RRP1A

NCBI Gene: 8568 ENSG00000160214 UniProt: P05386

The protein is involved in ribosomal RNA processing and plays a critical role in the generation of 28S rRNA during the late stages of nucleologenesis. Mutations in this gene cause autosomal recessive intellectual disability with microcephaly and growth retardation. The gene shows tolerance to loss-of-function variants (pLI near 0), consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.74

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429