ACP5
Chr 19ARacid phosphatase 5, tartrate resistant
Also known as: HPAP, TRACP5a, TRACP5b, TRAP, TRAcP, TrATPase
The protein is an iron-containing acid phosphatase that catalyzes dephosphorylation of bone matrix proteins including osteopontin and bone sialoprotein. Mutations cause spondyloenchondrodysplasia with immune dysregulation, a skeletal dysplasia with immunodeficiency that follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants with a LOEUF score of 0.724.
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
ACP5 · 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
Prunes Preventing Bone Loss in Perimenopause
RECRUITINGTreatment With Zoledronate Subsequent to Denosumab in Osteoporosis 2 (ZOLARMAB2)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools