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FLASH GENE
Symbol CPT2 contributors: npt/ - updated : 23-03-2007
HGNC name carnitine palmitoyltransferase II
HGNC id 2330
Corresponding disease
CPT2 carnitine palmitoyltransferase II defect
CPT2I CPT2 deficiency, infantile
Location 1p32.3      Physical location : 53.662.100 - 53.679.867
Synonym name carnitine O-palmitoyltransferase 2, mitochondrial
Synonym symbol(s) CPT, CPTASE, CPT1
EC.number 2.3.1.21
DNA
TYPE functioning gene
STRUCTURE 17.77 kb     5 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3110 - 658 - -
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrineneuroendocrinepituitary  highly
Lymphoid/Immunespleen   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal leader peptide 25 AA
  • carnitine O-acetyltransferase domain
    • HOMOLOGY
    interspecies ortholog to murine Cpt2
    Homologene
    FAMILY
  • carnitine/choline acetyltransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • carnitine palmitoyltransferase, malonyl CoA insensitive involved in transesterification of lung and medium fatty acyl chains
  • converting palmitoylcarnitine into palmitoyl-CoA (palmitoyl-CoA shuttle system)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    fatty acid beta oxidation pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by not inhibited by malonyl-CoA
    ASSOCIATED DISORDERS
    corresponding disease(s) CPT2 , CPT2I
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS