carnitine palmitoyltransferase-2 (CPT2)

Function: - fatty acid beta-oxidation cycle - transfers acyl groups of long chain fatty acids from carnitine to CoA at the matrix surface of the inner mitochondrial membrane - in contrast, CPT1 transfers the acyl group from CoA to carnitine on the cytoplasmic surface of the membrane palmitoyl-CoA + L-carnitine CoA + L- palmitoylcarnitine Structure: - belongs to the carnitine/choline acetyltransferase family Compartment: mitochondrial inner membrane Pathology: - defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency Laboratory: - CPT2 gene mutation Note: - carnitine palmitoyl transferases (CPT) function primarily in the mitochondrial transport of fatty acyl CoA's with chain lengths of C12-C18 - shorter chain fatty acids can cross the inner mitochondrial membrane directly & be converted to their CoA derivatives in the mitochondrial matrix - thus beta oxidation of C4-C10 is carnitine independent

Properties

SIZE: entity length = 658 aa MW = 74 kD COMPARTMENT: INNER-MITOCHONDRIAL-MEMBRABE MOTIF: histidine residue {H372} Coenzyme A binding {452-464} binding site SITE: 486-486 FOR-BINDING-OF: Carnitine binding site SITE: 488-488 FOR-BINDING-OF: Carnitine binding site SITE: 499-499 FOR-BINDING-OF: Carnitine

Database Correlations

OMIM correlations MORBIDMAP 600650 UniProt P23786 Entrez Gene 1376

References

Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 408