CPT2
entrez
1376
canonical
uniprot
P23786
canonical
ensembl
ENSG00000157184
resolver
ensp
ENSP00000360541
resolver
ensp
ENSP00000489631
resolver
enst
ENST00000371486
resolver
enst
ENST00000636867
resolver
genesymbol
CPT2
resolver
genesymbol_syn
CPT1
resolver
hgnc
HGNC:2330
resolver
uniprot
A0A140VK13
resolver
uniprot
A0A1B0GTB8
resolver
uniprot
B2R6S0
resolver
uniprot
Q5SW68
resolver
uniprot
Q9BQ26
resolver
uniprot_entry
A0A140VK13_HUMAN
resolver
uniprot_entry
A0A1B0GTB8_HUMAN
resolver
uniprot_entry
CPT2_HUMAN
resolver
uniprot_sec
B2R6S0
resolver
uniprot_sec
Q5SW68
resolver
uniprot_sec
Q9BQ26
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by trans-2-hexadecanoyl-CoA. {ECO:0000269|PubMed:20538056}.
uniprot
proteins
amino_acid_sequence
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS
uniprot
proteins
disease_involvement
DISEASE: Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110]: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and 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:24780397, ECO:0000269|PubMed:7711730, ECO:0000269|PubMed:8358442, ECO:0000269|PubMed:8651281, ECO:0000269|PubMed:9600456, ECO:0000269|PubMed:9758712, ECO:0000269|Ref.14, ECO:0000269|Ref.18}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) [MIM:600649]: An autosomal recessive 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. {ECO:0000269|PubMed:1528846, ECO:0000269|PubMed:8651281}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2DLN) [MIM:608836]: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive. {ECO:0000269|PubMed:11477613}. Note=The disease is caused by variants 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 variants 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}.
uniprot
proteins
ec_number
2.3.1.21
uniprot
proteins
function
FUNCTION: Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (PubMed:20538056). {ECO:0000269|PubMed:20538056, ECO:0000269|PubMed:24780397}.
uniprot
proteins
mass_dalton
73777
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid beta-oxidation. {ECO:0000269|PubMed:20538056}.
uniprot
proteins
protein_family
Carnitine/choline acetyltransferase family
uniprot
proteins
pubmed
10090476
uniprot
proteins
pubmed
11477613
uniprot
proteins
pubmed
14605500
uniprot
proteins
pubmed
14615409
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1528846
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15622536
uniprot
proteins
pubmed
15811315
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17488105
uniprot
proteins
pubmed
18306170
uniprot
proteins
pubmed
1961767
uniprot
proteins
pubmed
1988962
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20538056
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21697855
uniprot
proteins
pubmed
2174799
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24780397
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7711730
uniprot
proteins
pubmed
8358442
uniprot
proteins
pubmed
8651281
uniprot
proteins
pubmed
9600456
uniprot
proteins
pubmed
9758712
uniprot
proteins
sequence_length
658
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
uniprot
proteins