DENND5A
Chr 11ARDENN domain containing 5A
Also known as: DEE49, EIEE49, RAB6IP1
The protein functions as a guanine nucleotide exchange factor that activates Rab proteins by catalyzing GDP to GTP conversion and is recruited by RAB6 to Golgi membranes where it regulates membrane trafficking. Biallelic loss-of-function mutations cause developmental and epileptic encephalopathy 49, inherited in an autosomal recessive pattern. The pathogenic mechanism involves gain-of-function effects that disrupt normal Golgi-mediated cellular processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DENND5A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools