ABCA1 è un gene codificato dal simbolo ABCA1. Altri nomi includono: 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 ha una massa di 254.3kDa, una lunghezza di amminoacidi di 2261, ed è implicato nella malattia: High density lipoprotein deficiency 1; High density lipoprotein deficiency 2.
Offriamo 9 anticorpi contro ABCA1, allevati nel Coniglio e Ratto, che sono adatti per WB, IHC, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Specificità del tessuto
Widely expressed, but most abundant in macrophages.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the ABC transporter superfamily. ABCA family.
Modifica post-translazionale
Phosphorylation on Ser-2054 regulates phospholipid efflux.
Posizione cellulare
Membrane. Cell membrane. Endosome.
