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Literature summary for 2.3.1.21 extracted from

  • Bonnefont, J.P.; Djouadi, F.; Prip-Buus, C.; Gobin, S.; Munnich, A.; Bastin, J.
    Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects (2004), Mol. Aspects Med., 25, 495-520.
    View publication on PubMed

Application

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

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
CPT1-B
-
Homo sapiens
-
CPT1-C
-
Homo sapiens P23786 CPT2
-
Homo sapiens P50416 CPT1A; CPT1-A
-

Source Tissue

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 and Products (Substrate)

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

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