DCAF13

Chr 8

DDB1 and CUL4 associated factor 13

Also known as: GM83, HSPC064, Sof1, WDSOF1

NCBI Gene: 25879 ENSG00000164934 UniProt: Q9NV06

The DCAF13 protein functions as a substrate adaptor in the Cul4-RING E3 ubiquitin ligase complex and participates in ribosome biogenesis as part of the small subunit processome that processes 18S rRNA. DCAF13 mutations cause autosomal recessive developmental delay with seizures and intellectual disability, affecting neurological development. The gene plays critical roles in early embryonic development, ribosomal RNA processing, and female meiosis.

ResearchSummary from RefSeq, UniProt

Enables nuclear estrogen receptor binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including decidualization; epigenetic programming in the zygotic pronuclei; and spindle assembly involved in female meiosis. Located in several cellular components, including centrosome; cytosol; and nuclear lumen. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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