XAF1
Chr 17XIAP associated factor 1
Also known as: BIRC4BP, HSXIAPAF1, XIAPAF1
The XAF1 protein functions as a negative regulator of inhibitor of apoptosis proteins (IAPs), promoting apoptosis by inhibiting anti-caspase activity and facilitating mitochondrial apoptosis pathway activation. This gene is not highly constrained against loss-of-function variants and is not currently associated with established Mendelian disease in pediatric populations. While XAF1 may function as a tumor suppressor, definitive pediatric neurogenetic disorders caused by XAF1 mutations have not been established.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
XAF1 · 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
External Resources
Links to major genomics databases and tools