DCAF8

Chr 1

DDB1 and CUL4 associated factor 8

Also known as: GAN2, H326, WDR42A

NCBI Gene: 50717 ENSG00000132716 UniProt: Q5TAQ9

This protein functions as a substrate receptor for the CUL4-DDB1 E3 ubiquitin-protein ligase complex, which targets specific proteins for degradation. Mutations cause giant axonal neuropathy 2, a peripheral neuropathy characterized by enlarged axons, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.20), indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGiant axonal neuropathy 2, autosomal dominant

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)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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