Application | Comment | Organism |
---|---|---|
medicine | treatment of CPT2 deficiency is based upon avoidance of fasting and/or exercise, a low fat diet enriched with medium chain triglycerides and carnitine | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrial inner membrane | CPT2 | Homo sapiens | 5743 | - |
mitochondrial outer membrane | - |
Homo sapiens | 5741 | - |
mitochondrial outer membrane | CPT1 | Homo sapiens | 5741 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | CPT1-A defificiency presents as recurrent attacks of fasting hypoketotic hypoglycemia | ? | - |
? | |
additional information | Homo sapiens | the adult form of CPT2 deficiency is characterized by episodes of rhabdomyolysis triggered by prolonged exercise. The prevalent S113L mutation is found in about 50% of mutant alleles. The infantile-type CPT2 deficiency presents as severe attacks of hypoketptic hypoglycemia, occasionally associated with cardiac damage commonly responsible for sudden death before 1 year of age. In addition to theses symptoms features of brain and kidney dysorganogenesis are frequently seen in the neonatal-onset CPT2 deficiency, almost always lethal during the first month of life. 40 mutations habe been characterized in patients with the adult, infantile or neonatal form of CPT2 deficiency | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
CPT1-B | - |
Homo sapiens | - |
CPT1-C | - |
Homo sapiens | P23786 | CPT2 | - |
Homo sapiens | P50416 | CPT1A; CPT1-A | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
adipose tissue | CPT1-B | Homo sapiens | - |
brain | CPT1-C is predominantly expressed in | Homo sapiens | - |
colon | low level of expression of CPT1-C | Homo sapiens | - |
fibroblast | - |
Homo sapiens | - |
heart | CPT1-B | Homo sapiens | - |
liver | - |
Homo sapiens | - |
lymphocyte | - |
Homo sapiens | - |
additional information | ubiquitous expression of CPT2 | Homo sapiens | - |
ovary | low level of expression of CPT1-C | Homo sapiens | - |
skeletal muscle | CPT1-B | Homo sapiens | - |
small intestine | low level of expression of CPT1-C | Homo sapiens | - |
testis | expression of CPT1-B | Homo sapiens | - |
testis | low level of expression of CPT1-C | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | CPT1-A defificiency presents as recurrent attacks of fasting hypoketotic hypoglycemia | Homo sapiens | ? | - |
? | |
additional information | the adult form of CPT2 deficiency is characterized by episodes of rhabdomyolysis triggered by prolonged exercise. The prevalent S113L mutation is found in about 50% of mutant alleles. The infantile-type CPT2 deficiency presents as severe attacks of hypoketptic hypoglycemia, occasionally associated with cardiac damage commonly responsible for sudden death before 1 year of age. In addition to theses symptoms features of brain and kidney dysorganogenesis are frequently seen in the neonatal-onset CPT2 deficiency, almost always lethal during the first month of life. 40 mutations habe been characterized in patients with the adult, infantile or neonatal form of CPT2 deficiency | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
carnitine palmitoyltransferases 2 | ubiquitous protein | Homo sapiens |
CPT1-A | liver isoenzyme | Homo sapiens |
CPT1-B | muscle isoenzyme | Homo sapiens |
CPT1-C | brain isoenzyme | Homo sapiens |
CPT2 | - |
Homo sapiens |