DISEASES

Disease-gene associations mined from literature

Literature associating ABCA7 and cerebral amyloid angiopathy

ABCA7 [ENSP00000263094]

Phospholipid-transporting ATPase ABCA7; Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP . Transports preferentially phosphatidylserine over phosphatidylcholine . Plays a role in lipid homeostasis and macrophage- mediated phagocytosis (PubMed:14592415, PubMed:12917409, PubMed:12925201, PubMed:14570867). Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells . May also mediate cholesterol efflux . May regulate cellular ceramide homeostasis during keratinocyte differentiation . Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation (By similarity). Plays a role in phagocytosis of apoptotic cells by macrophages (By similarity). Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7 (By similarity). Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages (By similarity). Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing . Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients . ECO:0000269|PubMed:12917409, ECO:0000269|PubMed:12925201, ECO:0000269|PubMed:14570867, ECO:0000269|PubMed:14592415,

Synonyms:  ABCA7,  ABCA7p,  hABCA7,  A0A087WX86,  A0A087WZX6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM