DCAF8 Chromosome 1

DDB1 and CUL4 associated factor 8

2 variants 2 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"WD repeat domain containing|DDB1 and CUL4 associated factors"

Locus Type

gene with protein product

Location

1q23.2

Ensembl

ENSG00000132716

Associated Conditions (1)

Giant axonal neuropathy 2

Key Variants

RS376611740

Conflicting classifications of pathogenicity

Health Risk

RS587777425

Likely pathogenic

Giant axonal neuropathy 2, Giant axonal neuropathy 2

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS376611740	Health Risk	Conflicting classifications of pathogenicity	—
RS587777425	Health Risk	Likely pathogenic	Giant axonal neuropathy 2, Giant axonal neuropathy 2