CPT1A est un gène codé par le symbole CPT1A. D'autres noms incluent: Carnitine O-palmitoyltransferase 1, liver isoform; CPT1-L; Carnitine O-palmitoyltransferase I, liver isoform; CPT I; Carnitine palmitoyltransferase 1A; CPT1. CPT1A a une masse de 88.37kDa, une longueur d'acide aminé de 773, et est impliqué dans Carnitine palmitoyltransferase 1A deficiency.
Nous proposons 6 des anticorps contre CPT1A, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.
Résumé Entrez
The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Spécificité tissulaire
Strong expression in kidney and heart, and lower in liver and skeletal muscle.
Implication dans la maladie
Carnitine palmitoyltransferase 1A deficiency: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.
Similitudes de séquence
Belongs to the carnitine/choline acetyltransferase family.
Localisation cellulaire
Mitochondrion outer membrane.
