DCAF12

Chr 9

DDB1 and CUL4 associated factor 12

Also known as: CT102, KIAA1892, TCC52, WDR40A

NCBI Gene: 25853 ENSG00000198876 UniProt: Q5T6F0 OMIM: 620087

The protein functions as a substrate-recognition component of a DCX E3 ubiquitin-protein ligase complex that recognizes specific C-terminal degrons in target proteins, leading to their ubiquitination and degradation as part of the DesCEND pathway. Mutations cause autosomal recessive intellectual disability with developmental delay. The gene shows minimal constraint against loss-of-function variants based on population genetics data.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

Mechanism· predicted