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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ABCA5
ATP binding cassette subfamily A member 5
Chromosome 17 Β· 17q24.3
NCBI Gene: 23461Ensembl: ENSG00000154265.17HGNC: HGNC:35UniProt: Q8WWZ7
37PubMed Papers
20Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cholesterol homeostasischolesterol metabolic processregulation of cholesterol effluxlipid carrier activitygingival fibromatosis-hypertrichosis syndromeHypercholesterolemiagenetic disorderneurodegenerative disease
✦AI Summary

ABCA5 is an ATP-binding cassette transporter that functions primarily as a cholesterol efflux pump in multiple cell types. In macrophages, ABCA5 serves as a cholesterol efflux transporter responsible for APOAI/high-density lipoprotein formation and participates in reverse cholesterol transport, particularly under high cholesterol conditions where it compensates for downregulated ABCA1 1. The protein exhibits a unique conformation that favors cholesterol loading onto HDL particles for efficient reverse cholesterol transport 1. ABCA5 is expressed across various tissues including brain, liver, pancreas, and testis, with particularly high expression in neurons where it can stimulate cholesterol efflux 23. The transporter localizes to lysosomes and late endosomes, playing a role in autophagosome processing and endolysosomal cholesterol regulation 45. Clinically, ABCA5 has significant disease relevance: mutations cause congenital generalized hypertrichosis terminalis through impaired lysosome function and autophagosome accumulation 4. In Alzheimer's disease, ABCA5 expression is elevated in hippocampus and reduces amyloid-Ξ² peptide production without affecting AΞ²PP expression 3. Additionally, ABCA5 upregulation has been associated with chemotherapy resistance in cancer and identified as a potential biomarker in osteoarthritis progression 67.

Sources cited
1
ABCA5 functions as cholesterol efflux transporter in macrophages, compensates for ABCA1 downregulation under high cholesterol conditions, and has unique conformation favoring HDL loading
PMID: 32687853
2
ABCA5 is expressed in multiple tissues including liver, pancreas, and particularly high in testis
PMID: 12504089
3
ABCA5 is strongly expressed in neurons, can stimulate cholesterol efflux, is elevated in Alzheimer's disease hippocampus, and reduces amyloid-Ξ² production
PMID: 25125465
4
ABCA5 mutations cause congenital generalized hypertrichosis terminalis through impaired lysosome function and autophagosome accumulation
PMID: 24831815
5
ABCA5 localizes to endolysosomal system including lysosomes and late endosomes
PMID: 33098571
6
ABCA5 upregulation is associated with chemotherapy resistance in esophageal cancer
PMID: 38387281
7
ABCA5 identified as potential biomarker in osteoarthritis progression related to fibrocartilage chondrocytes
PMID: 39640258
Disease Associationsβ“˜20
gingival fibromatosis-hypertrichosis syndromeOpen Targets
0.55Moderate
HypercholesterolemiaOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.32Weak
circadian rhythm sleep disorderOpen Targets
0.29Weak
knee fractureOpen Targets
0.26Weak
placental retentionOpen Targets
0.23Weak
joint diseaseOpen Targets
0.23Weak
response to statinOpen Targets
0.09Suggestive
retinal degenerationOpen Targets
0.07Suggestive
Parkinson diseaseOpen Targets
0.05Suggestive
hypothyroidism, congenital, nongoitrous, 5Open Targets
0.05Suggestive
osteoarthritis, hipOpen Targets
0.05Suggestive
left ventricular noncompactionOpen Targets
0.05Suggestive
hypothyroidism due to TSH receptor mutationsOpen Targets
0.05Suggestive
familial gestational hyperthyroidismOpen Targets
0.05Suggestive
dyskinesia with orofacial involvement, autosomal recessiveOpen Targets
0.05Suggestive
hyperlipidemiaOpen Targets
0.05Suggestive
thyroid hormone metabolism, abnormal, 3Open Targets
0.05Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.05Suggestive
Pathogenic Variants5
NM_172232.4(ABCA5):c.1632_1633del (p.Arg544fs)Likely pathogenic
Gingival fibromatosis-hypertrichosis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 544
NM_172232.4(ABCA5):c.4315C>T (p.Arg1439Ter)Likely pathogenic
Gingival fibromatosis-hypertrichosis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 1439
NM_172232.4(ABCA5):c.2167_2168del (p.Leu723fs)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2020β†’ Residue 723
NM_172232.4(ABCA5):c.248del (p.Pro83fs)Pathogenic
Hypercholesterolemia, familial, 1
β˜†β˜†β˜†β˜†2022β†’ Residue 83
NM_172232.4(ABCA5):c.2569C>T (p.Arg857Cys)Likely pathogenic
Gingival fibromatosis-hypertrichosis syndrome
β˜†β˜†β˜†β˜†β†’ Residue 857
View on ClinVar β†—
Related Genes
ELP6Protein interaction81%CETPShared pathway37%SOAT2Shared pathway36%APOMShared pathway33%SOAT1Shared pathway30%ABCG1Shared pathway26%
Tissue Expression6 tissues
Liver
100%
Ovary
33%
Heart
27%
Bone Marrow
27%
Brain
22%
Lung
22%
Gene Interaction Network
Click a node to explore
ABCA5ELP6CETPSOAT2APOMSOAT1ABCG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WWZ7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.68–0.97]
RankingsWhere ABCA5 stands among ~20K protein-coding genes
  • #10,578of 20,598
    Most Researched37
  • #3,605of 5,498
    Most Pathogenic Variants5
  • #9,205of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedABCA5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant.
PMID: 12504089
Biochem Biophys Res Commun Β· 2003
1.00
2
Identification of key biomarkers related to fibrocartilage chondrocytes for osteoarthritis based on bulk, single-cell transcriptomic data.
PMID: 39640258
Front Immunol Β· 2024
0.90
3
Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor.
PMID: 17541169
Biol Pharm Bull Β· 2007
0.80
4
An inventory of lysosomal ABC transporters.
PMID: 33098571
FEBS Lett Β· 2020
0.70
5
Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.
PMID: 32687853
J Mol Biol Β· 2020
0.60