MEDAG
Chr 13mesenteric estrogen dependent adipogenesis
Also known as: AWMS3, C13orf33, MEDA-4, MEDA4, hAWMS3
The MEDAG protein promotes adipocyte differentiation, lipid accumulation, and glucose uptake in mature fat cells. Mutations cause autosomal recessive developmental delay, seizures, and hypotonia. This gene is not highly constrained against loss-of-function variants, with neurological symptoms being the primary clinical manifestations rather than metabolic dysfunction.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
104 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 53 | 8 | 0 | 61 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 55 | 44 | 1 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MEDAG · 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