DENND3 Chromosome 8
DENN domain containing 3
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What This Gene Does
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in endosome to lysosome transport; protein catabolic process; and regulation of Rab protein signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"WD repeat domain containing|DENN domain containing"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000105339
Associated Conditions (3)
Hirschsprung disease
susceptibility to
1
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144082723 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057519052 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |