PWP2

Chr 21

PWP2 small subunit processome component

Also known as: EHOC-17, PWP2H, UTP1

NCBI Gene: 5822 ENSG00000241945 UniProt: Q15269 OMIM: 601475

PWP2 encodes a protein that is part of the small subunit processome and functions in ribosomal small subunit biogenesis in the nucleolus. Mutations cause microcephaly, growth restriction, and facial dysmorphism with an autosomal recessive inheritance pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.499), consistent with its role in the essential cellular process of ribosome assembly.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Mechanism· predicted