Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis (Probable). May alter the transbilayer distribution of ceramide in the intraluminal membrane lipid bilayer, favoring its retention in the outer leaflet that results in increased acid ceramidase activity in the late endosome/lysosome, facilitating ceramide deacylation to sphingosine leading to the sequestration of free cholesterol in lysosomes. In addition regulates amyloid-beta production either by activating a signaling pathway that regulates amyloid precursor protein transcription through the modulation of sphingolipid metabolism or through its role in gamma-secretase processing of APP. May play a role in myelin formation.
|Gene References into Functions
- The analyses results suggested ABCA2 mRNA expression was upregulated significantly in AD compared with controls in all datasets. PMID: 29224028
- Our findings indicate a considerable and direct relationship between mRNA expression levels of ABCA2, ABCA3, MDR1, and MRP1 genes and positive minimal residual disease (MRD) measured after one year of treatment. PMID: 24145140
- Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization. PMID: 22086926
- SLC2A1/GLUT1, SLC1A3/EAAT1, and SLC1A2/EAAT2 were the main SLC proteins whereas ABCG2/BCRP, ABCB1/MDR1, ABCA2 and ABCA8 were the main ABC quantified in isolated brain microvessels PMID: 21707071
- A possible biochemical mechanism links ABCA2 expression, amyloid precursor protein processing, and Alzheimer's disease. PMID: 20704561
- we demonstrate that ABCA2-deficiency inhibits prostate tumor metastasis in vivo and decreases chemotactic potential of cells PMID: 21041019
- roles for this largest known ABC protein in neural transmembrane lipid export PMID: 12363033
- Reciprocal regulation of expression of the ABCA2 promoter by the early growth response-1 and Sp-family transcription factors. PMID: 12560508
- It is likely that expression of ABCA2 by two independent promoters constitutes locus of regulation controlling expression of the protein to meet requirements in different tissues. PMID: 15093135
- Increased expression of ABCA2 may be causally linked with altered expression of genes associated with the pathogenesis of Alzheimer disease. PMID: 15155565
- Among the 45 ABCA2 single nucleotide polymorphisms(SNPs) we tested, one synonymous SNP (rs908832) was found significantly associated with AD in both samples. PMID: 15649702
- the expression patterns of ABCA2 in combination with other markers showed phenotypic heterogeneity in schwannomas PMID: 15850583
- Data suggest that ABCA2 may exert population-dependent effects on the genetic risk for sporadic Alzheimer's disease and support a role of ABC lipid transporters in the pathogenesis of this disease. PMID: 16752360
- No association of ABCA2 Single Nucleotide Polymorphism on chromosome 9 with Alzheimer's disease. PMID: 18336955
||Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
||ABC transporter superfamily, ABCA family
||[Isoform 3]: Highly expressed in the brain,peripheral blood leukocytes and ovary, whereas lower levels of expression is observed in kidney and liver.; [Isoform 4]: Weakly expressed in brain and highly in peripheral blood leukocytes.