UBE2U

Chr 1

ubiquitin conjugating enzyme E2 U

NCBI Gene: 148581 ENSG00000177414 UniProt: Q5VVX9

This ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins and is involved in DNA repair and protein degradation pathways. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Predicted to enable ubiquitin conjugating enzyme activity. Predicted to be involved in DNA repair; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein polyubiquitination. Predicted to be part of HULC complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)