MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000148

UniProt Annotations

Entry Information

Gene Name	carnitine palmitoyltransferase 2
Protein Entry	CPT2_HUMAN
UniProt ID	P23786
Species	Human

Comments

Comment type	Description
Catalytic Activity	Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine.
Disease	Carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI) [MIM:600649]: A disorder of mitochondrial long-chain fatty acid oxidation characterized by hepatic or hepato-cardio- muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death. {ECO:0000269\|PubMed:10090476, ECO:0000269\|PubMed:11477613, ECO:0000269\|PubMed:14605500, ECO:0000269\|PubMed:14615409, ECO:0000269\|PubMed:1528846, ECO:0000269\|PubMed:15489334, ECO:0000269\|PubMed:15622536, ECO:0000269\|PubMed:7711730, ECO:0000269\|PubMed:8358442, ECO:0000269\|PubMed:8651281, ECO:0000269\|PubMed:9600456, ECO:0000269\|PubMed:9758712, ECO:0000269\|Ref.11, ECO:0000269\|Ref.15}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN) [MIM:608836]: Lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Encephalopathy, acute, infection-induced, 4 (IIAE4) [MIM:614212]: A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high- grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder. {ECO:0000269\|PubMed:15811315, ECO:0000269\|PubMed:21697855}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. CPT2 polymorphic variants do not cause classical carnitine palmitoyltransferase 2 deficiency, and patients harboring any of them are asymptomatic most of the time. However, they are prone to viral infection (high fever)-related encephalopathy (PubMed:21697855). {ECO:0000269\|PubMed:21697855}.
Pathway	Lipid metabolism; fatty acid beta-oxidation.
Similarity	Belongs to the carnitine/choline acetyltransferase family. {ECO:0000305}.
Subcellular Location	Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.