Apolipoprotein A I est un gène codé par le symbole APOA1. D'autres noms incluent: Apolipoprotein A-I; Apo-AI; Apolipoprotein A1; APOA1. Apolipoprotein A I a une masse de 30.78kDa, une longueur d'acide aminé de 267, et est impliqué dans les maladies: High density lipoprotein deficiency 2; High density lipoprotein deficiency 1; Amyloidosis 8.
Nous proposons 15 Apolipoprotein A I kits ELISA pour la détection qualitative ou quantitative de Apolipoprotein A I à partir d'échantillons Humain, Souris, Rat, Porcin, Lapin, Singe et Primates.
Informations sur les Gènes et les Protéines
Résumé 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.
Résumé 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.
Spécificité tissulaire
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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the apolipoprotein A1/A4/E family.
Modification post-traductionnelle
Glycosylated.
Localisation cellulaire
Secreted.
