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Details of CPT2 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| CPT2 | CPT1 | P23786 | CPT2_HUMAN | 1376 | ENSG00000157184 | Carnitine O-palmitoyltransferase 2, mitochondrial | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 255110 | 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. | 600649 | 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. | 608836 | 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. 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). | 614212 |
Phenotypes
Abdominal symptom, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bleeding, Abnormal cortical gyration, Abnormal glucose homeostasis, Abnormality of blood and blood-forming tissues, Abnormality of blood circulation, Abnormality of blood glucose concentration, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of cardiovascular system physiology, Abnormality of carnitine metabolism, Abnormality of cell physiology, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of connective tissue, Abnormality of dicarboxylic acid metabolism, Abnormality of fatty-acid anion metabolism, Abnormality of fatty-acid metabolism, Abnormality of finger, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of lipid metabolism, Abnormality of long-chain fatty-acid metabolism, Abnormality of metabolism/homeostasis, Abnormality of mitochondrial metabolism, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of neuronal migration, Abnormality of nitrogen compound homeostasis, Abnormality of prenatal development or birth, Abnormality of renal physiology, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the amniotic fluid, Abnormality of the basal ganglia, Abnormality of the breast, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebral cortex, Abnormality of the cerebral subcortex, Abnormality of the cerebral vasculature, Abnormality of the cerebral ventricles, Abnormality of the cerebrum, Abnormality of the digits, Abnormality of the ear, Abnormality of the elbow, Abnormality of the external nose, Abnormality of the eye, Abnormality of the face, Abnormality of the foot, Abnormality of the forebrain, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the head, Abnormality of the heart, Abnormality of the helix, Abnormality of the integument, Abnormality of the joints of the upper limbs, Abnormality of the kidney, Abnormality of the liver, Abnormality of the lower limb, Abnormality of the lung, Abnormality of the mitochondrion, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nail, Abnormality of the nasal tip, Abnormality of the nervous system, Abnormality of the nipple, Abnormality of the nose, Abnormality of the oral cavity, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the pinna, Abnormality of the renal pelvis, Abnormality of the respiratory system, Abnormality of the rib cage, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the thorax, Abnormality of the toenails, Abnormality of the upper limb, Abnormality of the upper urinary tract, Abnormality of the ureter, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the vasculature, Abnormality of urine homeostasis, Abnormal joint morphology, Abnormal location of ears, Abnormally folded helix, Abnormal muscle tone, Abnormal nasal morphology, Age of onset, All, Antenatal intracerebral hemorrhage, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenails, Autosomal recessive inheritance, Azotemia, Basal ganglia cysts, Bulbous nose, Cardiomegaly, Cardiomyopathy, Cerebral calcification, Cerebral hemorrhage, Contractures of the joints of the upper limbs, Decreased plasma carnitine, Decreased plasma free carnitine, Dicarboxylic aciduria, Dilatation of the renal pelvis, Dilated cardiomyopathy, Dyspnea, Ectopic calcification, Elbow flexion contracture, Elevated long chain fatty acids, Elevated serum creatine phosphokinase, Enlarged kidneys, Enlarged polycystic kidneys, Flexion contracture, Functional respiratory abnormality, Hepatic calcification, Hepatic steatosis, Hepatomegaly, High palate, Hydronephrosis, Hyperammonemia, Hyperbilirubinemia, Hypoglycemia, Hypoketotic hypoglycemia, Hypoplastic toenails, Increased muscle lipid content, Increased total bilirubin, Infantile onset, Internal hemorrhage, Intracerebral periventricular calcifications, Intracranial cystic lesion, Intracranial hemorrhage, Lethargy, Limb joint contracture, Limitation of joint mobility, Limited elbow movement, Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Long fingers, Low-set ears, Macrovesicular hepatic steatosis, Malformation of the heart and great vessels, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle cramps, Muscle stiffness, Muscle weakness, Muscular hypotonia, Myalgia, Myoglobinuria, Narrow palate, Nausea and vomiting, Neonatal hypotonia, Nonketotic hypoglycemia, Oligohydramnios, Onset, Onset and clinical course, Overfolded helix, Phenotypic abnormality, Polycystic kidney dysplasia, Polymicrogyria, Posteriorly rotated ears, Reduced consciousness/confusion, Renal cysts, Renal insufficiency, Respiratory arrest, Respiratory distress, Respiratory insufficiency, Rhabdomyolysis, Seizures, Small nail, Tapered finger, Ureteral duplication, Ventriculomegaly, Visceromegaly, Vomiting, Wide intermamillary distance.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Cpt2 | CG2107 | cpt-2 | Sp-Cpt2 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
SCCPDH | CPT2 | 0.116889959 | SCCPDH | CPT2 | cpx478 | no | no | no | Novel |