CTSA
Chr 20ADARcathepsin A
Also known as: BSVD6, GLB2, GSL, NGBE, PPCA, PPGB
The protein is a lysosomal serine carboxypeptidase with deamidase, esterase and carboxypeptidase activities that serves as a scaffold in the lysosomal multienzyme complex. Mutations cause galactosialidosis through autosomal recessive inheritance and brain small vessel disease 6 with leukoencephalopathy through autosomal dominant inheritance. The predicted mechanism of pathogenicity is dominant negative.
Definitive — sufficient evidence for diagnostic panels
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
CTSA · 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