Endogenous

CPT1A CPT1

CPT1A

Carnitine O-palmitoyltransferase 1, liver isoform ;
CPT1-L ;
Carnitine O-palmitoyltransferase I, liver isoform ;
CPT I ;
CPTI-L ;
Carnitine palmitoyltransferase 1A ;

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. [provided by RefSeq, Jul 2008],

Catalytic activity:Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.,Disease:Defects in CPT1A are the cause of carnitine palmitoyltransferase I deficiency (CPT-I deficiency) [MIM:255120]; also known as CPT1A deficiency. CPT I deficiency is a 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.,enzyme regulation:Inhibitors such as malonyl-CoA interact with its catalytic domain and not with an associated regulatory component.,pathway:Lipid metabolism; fatty acid beta-oxidation.,similarity:Belongs to the carnitine/choline acetyltransferase family.,tissue specificity:Strong expression in kidney and heart, and lower in liver and skeletal muscle.,

Mitochondrion outer membrane

Strong expression in kidney and heart, and lower in liver and skeletal muscle.

>>Fatty acid degradation ;
>>Fatty acid metabolism ;
>>PPAR signaling pathway ;
>>AMPK signaling pathway ;
>>Thermogenesis ;
>>Adipocytokine signaling pathway ;
>>Glucagon signaling pathway ;
>>Insulin resistance ;
>>Alcoholic liver disease