AMPD2
Chr 1ARadenosine monophosphate deaminase 2
Also known as: AMPD, PCH9, SPG63
The protein converts AMP to IMP as part of the purine nucleotide cycle, functioning as a homotetramer that plays a critical role in cellular energy metabolism. Mutations cause autosomal recessive spastic paraplegia 63 and pontocerebellar hypoplasia type 9, affecting the central nervous system with early-onset developmental abnormalities. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
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
AMPD2 · 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