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CPT2 carnitine palmitoyltransferase 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000098 Homo sapiens carnitine palmitoyltransferase 2 (CPT2), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005270484 PREDICTED: Homo sapiens carnitine palmitoyltransferase 2 (CPT2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol CPT2
Entrez Gene ID 1376
Full Name carnitine palmitoyltransferase 2
Synonyms CPT1, CPTASE, IIAE4
General protein information
Preferred Names
carnitine O-palmitoyltransferase 2, mitochondrial
Names
carnitine O-palmitoyltransferase 2, mitochondrial
CPT II
carnitine palmitoyltransferase II
NP_000089.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p32

Summary The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008].
Disorder

MIM: 600650

Myopathy due to CPT II deficiency, 255110 (3); CPT deficiency,

mRNA Protein Product Sequence Price Select
NM_000098, 169790951 NP_000089, 4503023 carnitine O-palmitoyltransferase 2, mitochondrial precursor ORF Sequence $700.00
XM_005270484, 530361830 XP_005270541, 530361831 carnitine O-palmitoyltransferase 2, mitochondrial isoform X1 ORF Sequence $700.00
KEGG
hsa00071Fatty acid degradation
hsa03320PPAR signaling pathway
hsa01212Fatty acid metabolism
WikiPathways
WP368Mitochondrial LC-Fatty Acid Beta-Oxidation
WP143Fatty Acid Beta Oxidation
BIOCYC
HUMAN_PWY-6111mitochondrial L-carnitine shuttle pathway
Reactome
REACT_19241Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
REACT_11082Import of palmitoyl-CoA into the mitochondrial matrix
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_116145PPARA activates gene expression
Homo sapiens (human)CPT2NP_000089.1
Pan troglodytes (chimpanzee)CPT2XP_001148628.1
Macaca mulatta (Rhesus monkey)CPT2XP_001112489.1
Canis lupus familiaris (dog)CPT2XP_546705.1
Bos taurus (cattle)CPT2NP_001039354.1
Mus musculus (house mouse)Cpt2NP_034079.2
Rattus norvegicus (Norway rat)Cpt2NP_037062.1
Gallus gallus (chicken)CPT2NP_001026458.2
Danio rerio (zebrafish)cpt2NP_001007448.1
Drosophila melanogaster (fruit fly)CG2107NP_647756.1
Caenorhabditis eleganscpt-2NP_001040977.1
Xenopus (Silurana) tropicalis (western clawed frog)cpt2NP_989193.1
Process
IDNameEvidence
GO:0006635fatty acid beta-oxidationIEA
GO:0006853carnitine shuttleTAS
GO:0044255cellular lipid metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005730nucleolusIDA
GO:0005739mitochondrionIDA
GO:0005743mitochondrial inner membraneNAS
GO:0005743mitochondrial inner membraneTAS
Function
IDNameEvidence
GO:0004095carnitine O-palmitoyltransferase activityNAS
GeneCards CPT2
UniProt P23786
Vega OTTHUMG00000008942
MIM 600650
Ensembl ENSG00000157184
HGNC 2330
HPRD 02802

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CPT2 gene?

The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are inside mitochondria, carnitine palmitoyltransferase 2 removes the carnitine and adds a substance called coenzyme A. Long-chain fatty acids must be joined to coenzyme A before they can be metabolized to produce energy. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.

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