ABCA7: ATP Binding Cassette Subfamily A Member 7
A key gene in lipid transport and Alzheimer's disease risk
Gene Information Card
| Symbol | ABCA7 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10347 ncbi.nlm.nih.gov/gene/10347 |
| Ensembl ID | ENSG00000064687 |
| UniProt ID | Q8IZY2 |
| OMIM ID | 605414 |
| HGNC ID | 37 |
| Aliases | ABC1, ABCA-SSN, CERP |
Description
ABCA7 encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily A. The protein is involved in lipid homeostasis, particularly phospholipid and cholesterol efflux to apolipoproteins. It also plays a role in phagocytosis by macrophages and microglia, and is implicated in Alzheimer's disease pathogenesis through genetic association studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Loss-of-function variants increase amyloid-beta accumulation and impair microglial phagocytosis | Multiple GWAS and sequencing studies (ClinVar, NCBI) |
| Tangier disease (familial HDL deficiency) | Rare ABCA7 mutations may contribute to low HDL cholesterol | Case reports (OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 15.2 | Medium |
| Liver | 6.1 | Low |
| Whole blood | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| THP-1 (monocyte) | 18.7 | Macrophage-like |
| HEK293 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3764650 | SNP (intronic) | ~0.10 (allele frequency) | Increased Alzheimer's risk (GWAS) |
| rs115550680 | Missense (p.Glu1114Lys) | <0.01 | Rare variant, loss-of-function |
| c.5570+5G>C | Splice site | <0.01 | Loss-of-function, associated with Alzheimer's |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site variants that reduce ABCA7 protein levels or activity, increasing Alzheimer's disease risk.
Gain of Function (GOF)
Not reported for ABCA7.
Dominant Negative (DN)
Not reported for ABCA7.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATPase activity |
| • phospholipid transporter activity | • cholesterol transporter activity |
| • phagocytosis | • lipid homeostasis |
| • plasma membrane |
Pathways
• Alzheimer's disease
• Lipid metabolism and transport
• Phagocytosis
Protein Summary
ABCA7 is a 2146-amino acid transmembrane protein that functions as an active transporter of phospholipids and cholesterol across cellular membranes. It is highly expressed in the brain, particularly in microglia and neurons, and is essential for efficient phagocytosis of apoptotic cells and amyloid-beta. Loss-of-function mutations are strongly associated with late-onset Alzheimer's disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA7 Knockout HEK293 Cell Line | EDJ-KQ7016 | Human | 10347 | Details Get a Quote |
| ABCA7 Knockout A-549 Cell Line | EDJ-KQ31756 | Human | 10347 | Details Get a Quote |
| ABCA7 Knockout HCT 116 Cell Line | EDJ-KQ31757 | Human | 10347 | Details Get a Quote |
| ABCA7 Knockout HeLa Cell Line | EDJ-KQ31758 | Human | 10347 | Details Get a Quote |
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