Apolipoprotein A I è un gene codificato dal simbolo APOA1. Altri nomi includono: Apolipoprotein A-I; Apo-AI; Apolipoprotein A1; APOA1. Apolipoprotein A I ha una massa di 30.78kDa, una lunghezza di amminoacidi di 267, ed è implicato nella malattia: High density lipoprotein deficiency 2; High density lipoprotein deficiency 1; Amyloidosis 8.
Offriamo 15 Apolipoprotein A I ELISA kit per il rilevamento qualitativo o quantitativo di Apolipoprotein A I da campioni di Umano, Topo, Ratto, Maiale, Coniglio, Scimmia e Primati.
Informazioni su geni e proteine
Riepilogo UniProt
Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.
Sommario di Entrez
This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein.
Specificità del tessuto
Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease.
Coinvolgimento nella malattia
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.
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.
Amyloidosis 8: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.
Somiglianze di sequenza
Belongs to the apolipoprotein A1/A4/E family.
Modifica post-translazionale
Glycosylated.
Posizione cellulare
Secreted.
