PUM3

Chr 9

pumilio RNA binding family member 3

Also known as: HA-8, HLA-HA8, KIAA0020, PEN, PUF-A, PUF6, XTP5

NCBI Gene: 9933 ENSG00000080608 UniProt: Q15397 OMIM: 609960

The protein binds RNA and regulates translation, while also inhibiting PARP1 poly(ADP-ribosyl)ation activity and protecting PARP1 from degradation following DNA damage. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in infancy with severe intellectual disability, seizures, and progressive brain atrophy. This gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Predicted to be involved in regulation of translation. Located in chromosome; endoplasmic reticulum; and nuclear lumen. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.38

LOEUF

Mechanism· predicted