ABCA7
Chr 19ADATP binding cassette subfamily A member 7
Also known as: ABCA-SSN, ABCX, AD9
The ABCA7 protein is an ATP-binding cassette transporter that catalyzes phospholipid translocation across cell membranes and plays important roles in lipid homeostasis, macrophage-mediated phagocytosis, and clearance of amyloid-beta by microglial cells. Mutations cause autosomal dominant susceptibility to Alzheimer disease. The gene shows tolerance to loss-of-function variants (LOEUF 1.067), suggesting that complete loss of function may not be the primary disease mechanism in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function, dominant-negative and loss-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
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
ABCA7 · 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
Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy
RECRUITINGThe Signature of Alzheimer's Disease in Subjective Cognitive Decline
RECRUITINGExternal Resources
Links to major genomics databases and tools