AZIN1
Chr 8antizyme inhibitor 1
Also known as: AZI, AZI1, AZIA1, OAZI, OAZIN, ODC1L
This antizyme inhibitor protein positively regulates ornithine decarboxylase activity and polyamine uptake by sequestering antizymes and preventing ornithine decarboxylase degradation, which is essential for maintaining cellular polyamine homeostasis required for growth and proliferation. Mutations cause autosomal recessive developmental abnormalities with perinatal lethality and liver morphological defects. The gene is highly constrained against loss-of-function variants, consistent with its essential role in early development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
2 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 2 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 2 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AZIN1 · 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