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Carnitine palmitoyltransferase II (CPT II) is a peripheral inner mitochondrial membrane protein ubiquitously found as a monomeric protein in all tissues that oxidize fatty acids. [12] It catalyzes the transesterification of palmitoylcarnitine back into palmitoyl-CoA which is now an activated substrate for β-oxidation inside the matrix.
Carnitine palmitoyltransferase I deficiency has an autosomal recessive pattern of inheritance. Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency by producing a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body ...
Palmitoylcarnitine is an ester derivative of carnitine involved in the metabolism of fatty acids.During the tricarboxylic acid cycle (TCA), fatty acids undergo a process known as β-oxidation to produce energy in the form of ATP. β-oxidation occurs primarily within mitochondria, however the mitochondrial membrane prevents the entry of long chain fatty acids (>C10), so the conversion of fatty ...
12896 Ensembl ENSG00000157184 ENSMUSG00000028607 UniProt P23786 P52825 RefSeq (mRNA) NM_000098 NM_001330589 NM_009949 RefSeq (protein) NP_000089 NP_001317518 NP_034079 Location (UCSC) Chr 1: 53.2 – 53.21 Mb Chr 4: 107.76 – 107.78 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 ...
The carnitine palmitoyltransferase system is an essential step in the beta-oxidation of long chain fatty acids. This transfer system is necessary because, while fatty acids are activated (in the form of a thioester linkage to coenzyme A) on the outer mitochondrial membrane, the activated fatty acids must be oxidized within the mitochondrial ...
Carnitine Transport Defect; Carnitine-acylcarnitine translocase deficiency (CACT) Carnitine Palmitoyl Transferase I & II ( CPT I deficiency & CPT II deficiency) 2,4 Dienoyl-CoA Reductase Deficiency; Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GA-II/MADD) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG deficiency)
ERT has also been used to treat patients with severe combined immunodeficiency (SCID) resulting from an adenosine deaminase deficiency . [2] Other treatment options for patients with enzyme or protein deficiencies include substrate reduction therapy, gene therapy, and bone-marrow derived stem cell transplantation. [1] [3] [4]
Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. [ 1 ]