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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ABCA7
ATP binding cassette subfamily A member 7
Chromosome 19 Β· 19p13.3
NCBI Gene: 10347Ensembl: ENSG00000064687.13HGNC: HGNC:37UniProt: B3KUJ3
100PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
amyloid-beta formationhigh-density lipoprotein particle assemblyphosphatidylserine floppase activityapolipoprotein A-I-mediated signaling pathwayAlzheimer diseasemacular degenerationdementiarespiratory tract infectious disorder
✦AI Summary

ABCA7 (ATP binding cassette subfamily A member 7) is a lipid transporter that catalyzes ATP-dependent phospholipid translocation across cellular membranes, with preferential transport of phosphatidylserine over phosphatidylcholine 1. The protein plays crucial roles in lipid homeostasis, cholesterol efflux, and macrophage-mediated phagocytosis of apoptotic cells 23. ABCA7 is highly expressed in microglial cells and functions in amyloid-Ξ² clearance and processing 45. Loss-of-function variants in ABCA7 significantly increase Alzheimer's disease risk through multiple mechanisms 67. ABCA7 deficiency disrupts mitochondrial lipid metabolism, particularly affecting phosphatidylglycerol and cardiolipin levels, leading to compromised mitochondrial respiration, increased oxidative stress, and impaired synaptic function 89. In neurons, ABCA7 deficiency alters phosphatidylcholine metabolism and causes mitochondrial dysfunction, which can be rescued by CDP-choline supplementation 9. Neuronal ABCA7 deficiency exacerbates amyloid pathology and neurodegeneration by disturbing mitochondrial homeostasis 10. These findings establish ABCA7 as a critical regulator of neuronal lipid metabolism and mitochondrial function, with therapeutic implications for Alzheimer's disease treatment.

Sources cited
1
ABCA7 catalyzes ATP-dependent phospholipid translocation with preference for phosphatidylserine over phosphatidylcholine
PMID: 24097981
2
ABCA7 plays roles in lipid homeostasis and macrophage-mediated phagocytosis
PMID: 12917409
3
ABCA7 functions in cholesterol efflux
PMID: 14570867
4
ABCA7 is highly expressed in microglial cells
PMID: 24878767
5
ABCA7 functions in amyloid-Ξ² clearance and processing
PMID: 26260791
6
ABCA7 variants are associated with Alzheimer's disease risk
PMID: 24951455
7
ABCA7 loss-of-function variants increase Alzheimer's disease risk through multiple mechanisms
PMID: 33925691
8
ABCA7 deficiency disrupts mitochondrial lipid metabolism and causes mitochondrial dysfunction
PMID: 38135757
9
ABCA7 deficiency affects phosphatidylcholine metabolism and can be rescued by CDP-choline supplementation
PMID: 40931065
10
Neuronal ABCA7 deficiency exacerbates amyloid pathology and disturbs mitochondrial homeostasis
PMID: 40145325
Disease Associationsβ“˜21
Alzheimer diseaseOpen Targets
0.57Moderate
macular degenerationOpen Targets
0.33Weak
dementiaOpen Targets
0.33Weak
laryngeal diseaseOpen Targets
0.28Weak
respiratory tract infectious disorderOpen Targets
0.28Weak
late-onset Alzheimers diseaseOpen Targets
0.21Weak
bilirubin metabolism diseaseOpen Targets
0.16Weak
neuromuscular diseaseOpen Targets
0.15Weak
Flexion contractureOpen Targets
0.14Weak
amyotrophic lateral sclerosisOpen Targets
0.12Weak
neurodegenerative diseaseOpen Targets
0.10Suggestive
ovarian dysfunctionOpen Targets
0.08Suggestive
Nasal Cavity PolypOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
age-related macular degenerationOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
COVID-19Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
Alzheimer disease 9UniProt
Pathogenic Variants18
NM_019112.4(ABCA7):c.3255G>A (p.Trp1085Ter)Likely pathogenic
Alzheimer disease 9
β˜…β˜†β˜†β˜†2025β†’ Residue 1085
NM_019112.4(ABCA7):c.3547C>T (p.Gln1183Ter)Likely pathogenic
Alzheimer disease 9
β˜…β˜†β˜†β˜†2024β†’ Residue 1183
NM_019112.4(ABCA7):c.3423+1G>TLikely pathogenic
Alzheimer disease 9
β˜…β˜†β˜†β˜†2024
NM_019112.4(ABCA7):c.3397_3403dup (p.Ser1135fs)Likely pathogenic
ABCA7-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 1135
NM_019112.4(ABCA7):c.4417-1G>CLikely pathogenic
ABCA7-related disorder
β˜…β˜†β˜†β˜†2023
NM_019112.4(ABCA7):c.3247C>T (p.Gln1083Ter)Pathogenic
ABCA7-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 1083
NM_019112.4(ABCA7):c.2691dup (p.Val898fs)Likely pathogenic
ABCA7-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 898
NM_019112.4(ABCA7):c.273del (p.Arg93fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 93
NM_019112.4(ABCA7):c.1337_1338del (p.Ser446fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 446
NM_019112.4(ABCA7):c.1048-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_019112.4(ABCA7):c.1009dup (p.Thr337fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 337
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter)Likely pathogenic
not provided|Alzheimer disease 9
β˜…β˜†β˜†β˜†2022β†’ Residue 1679
NM_019112.4(ABCA7):c.1622+2_1622+3delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_019112.4(ABCA7):c.2326G>T (p.Gly776Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 776
NM_019112.4(ABCA7):c.4007G>A (p.Trp1336Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1336
NM_019112.4(ABCA7):c.5260C>T (p.Arg1754Ter)Likely pathogenic
ABCA7-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 1754
NM_019112.4(ABCA7):c.805G>T (p.Glu269Ter)Likely pathogenic
ABCA7-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 269
NM_019112.4(ABCA7):c.5850del (p.Asp1950fs)Likely pathogenic
ABCA7-related disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 1950
View on ClinVar β†—
Related Genes
TREM2Protein interaction100%CLUProtein interaction99%ARHGAP45Protein interaction89%MS4A4EProtein interaction82%CASS4Protein interaction81%ZCWPW1Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
70%
Liver
19%
Brain
7%
Heart
6%
Ovary
3%
Gene Interaction Network
Click a node to explore
ABCA7TREM2CLUARHGAP45MS4A4ECASS4ZCWPW1
PROTEIN STRUCTURE
Preparing viewer…
PDB8Y1P Β· 3.45 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.37LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.23 [1.11–1.37]
RankingsWhere ABCA7 stands among ~20K protein-coding genes
  • #4,759of 20,598
    Most Researched100 Β· top quartile
  • #2,281of 5,498
    Most Pathogenic Variants18
  • #14,263of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedABCA7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Alzheimer's disease risk genes and mechanisms of disease pathogenesis.
PMID: 24951455
Biol Psychiatry Β· 2015
1.00
2
ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism.
PMID: 38135757
Mol Psychiatry Β· 2024
0.90
3
ABCA7 variants impact phosphatidylcholine and mitochondria in neurons.
PMID: 40931065
Nature Β· 2025
0.80
4
Decoding microglial immunometabolism: a new frontier in Alzheimer's disease research.
PMID: 40149001
Mol Neurodegener Β· 2025
0.70
5
Role of ABCA7 in Human Health and in Alzheimer's Disease.
PMID: 33925691
Int J Mol Sci Β· 2021
0.60