GADD45A
Chr 1growth arrest and DNA damage inducible alpha
Also known as: DDIT1, GADD45
The protein regulates p38 MAPK signaling in T-cells and stimulates DNA excision repair while inhibiting cell cycle progression into S phase. Mutations cause intellectual disability with dysmorphic facies and behavioral abnormalities with autosomal dominant inheritance. The gene shows tolerance to loss-of-function variants based on population genetics data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
44 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 12 | 4 | 0 | 16 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 12 | 26 | 1 | 39 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GADD45A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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