ABCA2

Isoform 3 of ATP-binding cassette sub-family A member 2; Isoform 2 of ATP-binding cassette sub-family A member 2; Isoform 4 of ATP-binding cassette sub-family A member 2;ATP-binding cassette sub-family A member 2

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) (PubMed:15238223, PubMed:21810484, PubMed:24201375). 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 (PubMed:24201375). 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 (PubMed:22086926, PubMed:26510981). May play a role in myelin formation (By similarity).

Matrix Type

  • Tissue/Cells

Gene Symbol

  • ABCA2

UniProt ID

  • Q9BZC7
  • Q9BZC7-3
  • Q9BZC7-4

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