DENND5B Chromosome 12
DENN domain containing 5B
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What This Gene Does
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in positive regulation of triglyceride transport. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
12p11.21
Ensembl
ENSG00000170456
Associated Conditions (1)
DENND5B-related neurodevelopmental disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2498535051 | Health Risk | Pathogenic/Likely pathogenic | DENND5B-related neurodevelopmental disorder, DENND5B-related neurodevelopmental disorder |