STAMBP
Chr 2ARSTAM binding protein
Also known as: AMSH, MICCAP
STAMBP encodes a zinc metalloprotease that cleaves specific polyubiquitin chains and regulates endosomal sorting of cell surface receptors to lysosomes, playing key roles in cytokine signaling, BMP signaling, and receptor-mediated endocytosis. Autosomal recessive mutations cause microcephaly-capillary malformation syndrome, affecting brain development and vascular formation. The gene shows low constraint to loss-of-function variation (pLI 0.00005), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
STAMBP · 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