ABCC6
Chr 16ARADATP binding cassette subfamily C member 6
Also known as: ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6
The ABCC6 protein is an ATP-dependent transporter that actively extrudes physiological compounds and xenobiotics from cells, including glutathione conjugates and other organic compounds. Mutations cause pseudoxanthoma elasticum (a connective tissue disorder affecting skin, eyes, and cardiovascular system) and generalized arterial calcification of infancy, both involving abnormal calcium deposition in elastic tissues. Inheritance is typically autosomal recessive, though autosomal dominant forms also occur.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ABCC6 · 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
PPI Supplementation to Fight ECtopIc Calcification in PXE
RECRUITINGADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
RECRUITINGPurinergic Compounds in Pseudoxanthoma Elasticum
RECRUITINGProgression Assessment of PXE-associated Alterations
RECRUITINGExternal Resources
Links to major genomics databases and tools