Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

2.3.1.21

RLRdb entry

RL00236

Organisms

Homo sapiens (Human) (9606_human)

Synonyms

Carnitine O-palmitoyltransferase 2, mitochondrial;
EC=2.3.1.21;
Carnitine palmitoyltransferase II;
Short=CPT II;
Flags: Precursor;

Key words

Acetylation, Acyltransferase, Direct protein sequencing, Disease mutation, Fatty acid metabolism, Lipid metabolism, Membrane, Mitochondrion, Mitochondrion inner membrane, Polymorphism, Transferase, Transit peptide, Transport

Links to iHOP

P23786

Subcellular localization

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side

Catalytic activity

Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine

Gene ontology

P:regulation of fatty acid oxidation
P:carnitine shuttle
P:fatty acid beta-oxidation
F:carnitine O-palmitoyltransferase activity
C:mitochondrial inner membrane

Disease

Defects in CPT2 are the cause of carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:255110, 600649]. CPT-II deficiency is an 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
Defects in CPT2 are the cause of lethal neonatal carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:608836]; a lethal neonatal form of CPT-II deficiency. 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.

Fasta

>P23786 : length: 658
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDT
IRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMY
LSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNP
AKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWA
ELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLII
AKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT
DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHG
QLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLG
GFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS



  Copyright 2009, Center for Bioinformatics 
  Last Modified: 2009-03-24  
  Design by Zhao Min