Literature associating ABCA1 and C syndrome
ABCA1 [ENSP00000363868]
Phospholipid-transporting ATPase ABCA1; Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP . Thereby, participates to phospholipids transfer to apoliproteins to form nascent high density lipoproteins/HDLs . Transports preferentially phosphatidylcholine over phosphatidylserine . May play a similar role in the efflux of intracellular cholesterol to apoliproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981); Belongs to the ABC transporter superfamily. ABCA family.
Synonyms: ABCA1, ABCA1p, hABCA1, B1AMI1, B1AMI2 ...