Abca7 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
ATP-Binding Cassette Transporter A7
| Gene Symbol | ABCA7 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 7 |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10347 |
| OMIM | 605414 |
| Ensembl ID | 64619 |
| UniProt ID | Q9Y5X4 |
| Associated Diseases | Alzheimer's Disease |
| Gene Symbol | ABCA7 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 7 |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10347 |
| OMIM | 605414 |
| Ensembl ID | ENSG00000164619 |
| UniProt ID | Q9Y5X4 |
| Associated Diseases | Alzheimer's Disease |
ABCA7 (ATP-Binding Cassette Transporter A7) is a member of the ATP-binding cassette transporter family that is highly expressed in the brain, particularly in microglia and neurons. This protein plays a critical role in lipid homeostasis, cellular phagocytosis, and apolipoprotein E (ApoE) metabolism—all processes that are relevant to Alzheimer's disease (AD) pathogenesis.
Genetic variants in ABCA7 are significant risk factors for late-onset Alzheimer's disease. Genome-wide association studies (GWAS) have consistently identified ABCA7 as one of the top AD risk loci, with certain variants increasing disease risk by approximately 1.4-1.6 fold. The mechanism involves impaired microglial function, reduced Aβ clearance, and altered lipid metabolism in the brain.
ABCA7 encodes an ATP-binding cassette (ABC) transporter that is highly expressed in the brain, particularly in microglia and neurons. The protein functions as a lipid floppase that transports phospholipids and cholesterol across cellular membranes.
Key functions include:
ABCA7 is a full ABC transporter with 12 transmembrane domains and two nucleotide-binding domains (NBDs) that hydrolyze ATP to drive substrate transport.
Common genetic variants in ABCA7 are associated with increased risk for late-onset Alzheimer's disease. GWAS have identified ABCA7 as one of the top AD risk loci:
ABCA7 knock-out mice show increased amyloid deposition and cognitive deficits, while ABCA7 overexpression improves Aβ clearance.
ABCA7 shows high expression in immune cells and brain:
Subcellular localization includes the plasma membrane and endoplasmic reticulum.
The study of Abca7 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Last updated: 2026-03-04