DENND4B Chromosome 1
DENN domain containing 4B
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What This Gene Does
Enables guanyl-nucleotide exchange factor activity. Involved in regulation of Rab protein signal transduction. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000198837
Associated Conditions (2)
Short stature
DENND4B-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201381125 | Health Risk | Conflicting classifications of pathogenicity | Short stature, DENND4B-related disorder, Short stature |
| RS1557853919 | Health Risk | Likely pathogenic | Short stature, Short stature |