AGTPBP1
Chr 9ARATP/GTP binding carboxypeptidase 1
Also known as: CCP1, CONDCA, NNA1
AGTPBP1 encodes a metallocarboxypeptidase that removes polyglutamate side chains from tubulin and other proteins, a process called deglutamylation that regulates microtubule dynamics. Mutations cause autosomal recessive childhood-onset neurodegeneration with cerebellar atrophy. The gene is highly constrained against loss-of-function variants (LOEUF 0.351), indicating that complete loss of function is likely incompatible with normal development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AGTPBP1 · 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