ABCA1 ist ein Gen, das durch das Symbol ABCA1 kodiert wird. Andere Namen sind: Phospholipid-transporting ATPase ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; Cholesterol efflux regulatory protein; ABC1; CERP. ABCA1 hat eine Masse von 254.3kDa, eine Aminosäurelänge von 2261, und ist an folgenden Krankheiten beteiligt: High density lipoprotein deficiency 1; High density lipoprotein deficiency 2.
Wir bieten 9 antikörper gegen ABCA1, aufgewachsen in Kaninchen und Ratte, welche geeignet sind für WB, IHC, ICC/IF and FC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Thereby, participates to phospholipids transfer to apoliproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). 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).
Entrez Zusammenfassung
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency.
Gewebespezifität
Widely expressed, but most abundant in macrophages.
Rolle bei Krankheiten
High density lipoprotein deficiency 1: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.
High density lipoprotein deficiency 2: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
Sequenzähnlichkeiten
Belongs to the ABC transporter superfamily. ABCA family.
Posttranslationale Modifikation
Phosphorylation on Ser-2054 regulates phospholipid efflux.
Zellort
Membrane. Cell membrane. Endosome.
