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Aliases for CPT2 Gene

Aliases for CPT2 Gene

  • Carnitine Palmitoyltransferase 2 2 3 5
  • Carnitine Palmitoyltransferase II 2 3 4
  • EC 2.3.1.21 4 61
  • CPT II 3 4
  • CPT1 3 4
  • Carnitine O-Palmitoyltransferase 2, Mitochondrial 3
  • Testicular Secretory Protein Li 13 3
  • CPTASE 3
  • IIAE4 3

External Ids for CPT2 Gene

Previous HGNC Symbols for CPT2 Gene

  • CPT1

Previous GeneCards Identifiers for CPT2 Gene

  • GC01P053297
  • GC01P052551
  • GC01P053020
  • GC01P053032
  • GC01P053374
  • GC01P053434
  • GC01P053662
  • GC01P051777

Summaries for CPT2 Gene

Entrez Gene Summary for CPT2 Gene

  • 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]

GeneCards Summary for CPT2 Gene

CPT2 (Carnitine Palmitoyltransferase 2) is a Protein Coding gene. Diseases associated with CPT2 include Myopathy Due To Cpt Ii Deficiency and Cpt Deficiency, Hepatic, Type Ii. Among its related pathways are Fatty acid metabolism and AMPK Enzyme Complex Pathway. GO annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity.

Gene Wiki entry for CPT2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPT2 Gene

Genomics for CPT2 Gene

Regulatory Elements for CPT2 Gene

Enhancers for CPT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G053245 0.7 ENCODE 10.6 +50.3 50264 1.4 PAF1 TBL1XR1 ZMYM3 TBX21 EP300 GABPA SP1 ARID3A MAFK CREM C1orf123 CPT2 ENSG00000232762 GC01M053244 LOC105378728
GH01G053154 0.7 dbSUPER 10.4 -40.7 -40659 3.4 BCOR CTCF TFAP4 CEBPG ZNF384 RAD21 ADNP NFE2 ZNF680 ZNF132 CPT2 SLC1A7 PODN LOC105378724
GH01G053195 1.1 ENCODE 6.3 +0.8 819 3.6 HDGF PKNOX1 FOXA2 ARNT AGO1 SIN3A FEZF1 YY1 ZNF207 KLF13 C1orf123 HSPB11 CPT2 PIR34935
GH01G053249 0.7 ENCODE 9.9 +53.4 53393 1.6 YBX3 CTCF ZNF2 RAD21 POLR2A ZNF366 SCRT2 SMC3 SMARCA5 SCRT1 C1orf123 LRP8 LINC01771 CPT2 LOC105378728 GC01M053244
GH01G053165 0.8 ENCODE 4.2 -30.6 -30588 1.4 BCOR ESRRA ZSCAN26 INSM2 ZMYM3 CEBPG RAD21 ZKSCAN1 ZBTB48 ZNF157 C1orf123 SLC1A7 MAGOH ZCCHC11 PODN CPT2 LOC105378724
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPT2 on UCSC Golden Path with GeneCards custom track

Promoters for CPT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006490 671 1401 HDGF PKNOX1 FOXA2 ARNT AGO1 SIN3A FEZF1 YY1 ZNF207 KLF13

Genomic Location for CPT2 Gene

Chromosome:
1
Start:
53,196,429 bp from pter
End:
53,214,197 bp from pter
Size:
17,769 bases
Orientation:
Plus strand

Genomic View for CPT2 Gene

Genes around CPT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPT2 Gene

Proteins for CPT2 Gene

  • Protein details for CPT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23786-CPT2_HUMAN
    Recommended name:
    Carnitine O-palmitoyltransferase 2, mitochondrial
    Protein Accession:
    P23786
    Secondary Accessions:
    • B2R6S0
    • Q5SW68
    • Q9BQ26

    Protein attributes for CPT2 Gene

    Size:
    658 amino acids
    Molecular mass:
    73777 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CPT2 Gene

Selected DME Specific Peptides for CPT2 Gene

P23786:
  • LGGFAPVV
  • WIGCNVSSY
  • FHLNPAKSDT
  • AQLAFQM
  • ATYESCSTAAFKHGRTET
  • PWFDMYL
  • FQMAFLRQYG
  • KVDSAVFCLCLDDFP
  • VNAYPLDMSQYFRLFN
  • DRHLFAL
  • SIVPTMHYQDSLPRLPIPKLEDT
  • QAHLKYIL
  • NKHTSYIS
  • FDVLDQDGNIV
  • VLNFNPF
  • RWFDKSF
  • RATNMTVSA

Post-translational modifications for CPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CPT2

Domains & Families for CPT2 Gene

Protein Domains for CPT2 Gene

Suggested Antigen Peptide Sequences for CPT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23786

UniProtKB/Swiss-Prot:

CPT2_HUMAN :
  • Belongs to the carnitine/choline acetyltransferase family.
Family:
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CPT2: view

No data available for Gene Families for CPT2 Gene

Function for CPT2 Gene

Molecular function for CPT2 Gene

GENATLAS Biochemistry:
carnitine palmitoyltransferase of the inner mitochondrial membrane 2,liver isoform,malonyl CoA insensitive,converting palmitoylcarnitine into palmitoyl-CoA (palmitoyl-CoA shuttle system)
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.

Enzyme Numbers (IUBMB) for CPT2 Gene

Gene Ontology (GO) - Molecular Function for CPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004095 carnitine O-palmitoyltransferase activity NAS 1988962
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with CPT2: view
genes like me logo Genes that share phenotypes with CPT2: view

Human Phenotype Ontology for CPT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CPT2 Gene

MGI Knock Outs for CPT2:
  • Cpt2 tm1b(KOMP)Wtsi

Animal Model Products

miRNA for CPT2 Gene

No data available for Transcription Factor Targets and HOMER Transcription for CPT2 Gene

Localization for CPT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPT2 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPT2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 2

Gene Ontology (GO) - Cellular Components for CPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CPT2: view

Pathways & Interactions for CPT2 Gene

genes like me logo Genes that share pathways with CPT2: view

UniProtKB/Swiss-Prot P23786-CPT2_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for CPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IEA --
GO:0006810 transport IEA --
GO:0006853 carnitine shuttle TAS --
genes like me logo Genes that share ontologies with CPT2: view

No data available for SIGNOR curated interactions for CPT2 Gene

Drugs & Compounds for CPT2 Gene

(24) Drugs for CPT2 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Perhexiline Approved Pharma inhibitor, Target 8
L-Carnitine Approved Pharma Target 0
Glycerol Approved, Experimental Pharma 238
Pyruvate Approved Nutra 44
Caprylic acid Experimental Pharma 0

(21) Additional Compounds for CPT2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,8 Dimethylnonanoyl carnitine
  • 4,8-Dimethylnonanoylcarnitine
Caproic acid
  • 1-Hexanoate
  • 1-Hexanoic acid
  • 1-Pentanecarboxylate
  • 1-Pentanecarboxylic acid
  • Butylacetate
142-62-1
hexadecanoyl-CoA
L-Palmitoylcarnitine
  • (+)-palmitoylcarnitine
  • (3S)-3-hexadecanoyloxy-4-(trimethylammonio)butanoate
  • (3S)-3-hexadecanoyloxy-4-(trimethylammonio)butanoic acid
  • (3S)-3-palmitoyloxy-4-(trimethylammonio)butanoate
  • (3S)-3-palmitoyloxy-4-(trimethylammonio)butanoic acid
2364-67-2
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl Coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme a
  • Palmitoyl-CoA
1763-10-6

(1) ApexBio Compounds for CPT2 Gene

Compound Action Cas Number
Etomoxir (CPT)-1 and DGAT activity inhibitor 124083-20-1
genes like me logo Genes that share compounds with CPT2: view

Transcripts for CPT2 Gene

Unigene Clusters for CPT2 Gene

Carnitine palmitoyltransferase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CPT2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: -
SP2:
SP3: - -

Relevant External Links for CPT2 Gene

GeneLoc Exon Structure for
CPT2
ECgene alternative splicing isoforms for
CPT2

Expression for CPT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPT2 Gene

This gene is overexpressed in Liver (x5.0).

Protein differential expression in normal tissues from HIPED for CPT2 Gene

This gene is overexpressed in Liver (7.4) and Nasal epithelium (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CPT2 Gene



Protein tissue co-expression partners for CPT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPT2 Gene:

CPT2

SOURCE GeneReport for Unigene cluster for CPT2 Gene:

Hs.713535

Evidence on tissue expression from TISSUES for CPT2 Gene

  • Liver(4.6)
  • Skin(4.3)
  • Muscle(2.8)
  • Nervous system(2.6)
  • Heart(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CPT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • forehead
  • head
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • breast
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • biliary tract
  • kidney
  • liver
  • stomach
Pelvis:
  • ureter
  • urinary bladder
  • uterus
Limb:
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with CPT2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CPT2 Gene

Orthologs for CPT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CPT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPT2 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia CPT2 34 35
  • 88.8 (n)
dog
(Canis familiaris)
Mammalia CPT2 34 35
  • 88.05 (n)
mouse
(Mus musculus)
Mammalia Cpt2 34 16 35
  • 86.32 (n)
rat
(Rattus norvegicus)
Mammalia Cpt2 34
  • 85.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CPT2 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CPT2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CPT2 34 35
  • 72.92 (n)
lizard
(Anolis carolinensis)
Reptilia CPT2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpt2 34
  • 69.34 (n)
MGC76152 34
African clawed frog
(Xenopus laevis)
Amphibia cg2107-prov 34
zebrafish
(Danio rerio)
Actinopterygii cpt2 34 35
  • 67.19 (n)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008907 34
  • 54.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2107 36 34 35
  • 53.43 (n)
worm
(Caenorhabditis elegans)
Secernentea cpt-2 34 35
  • 50.55 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER224W 34
  • 46.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAT1 34 35 37
  • 45.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04169g 34
  • 44.15 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01611 34
  • 49.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToOne
Species where no ortholog for CPT2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CPT2 Gene

ENSEMBL:
Gene Tree for CPT2 (if available)
TreeFam:
Gene Tree for CPT2 (if available)

Paralogs for CPT2 Gene

(1) SIMAP similar genes for CPT2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for CPT2 Gene

genes like me logo Genes that share paralogs with CPT2: view

No data available for Paralogs for CPT2 Gene

Variants for CPT2 Gene

Sequence variations from dbSNP and Humsavar for CPT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs186044004 Pathogenic, Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] 53,213,264(+) CACAG(A/G)CCAGG reference, missense
rs28936376 Pathogenic, Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] 53,213,275(+) GCTTT(A/G)ACCGA reference, missense
rs28936673 Pathogenic, Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110], Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) [MIM:600649] 53,213,501(+) TTCCT(A/C)CCCAG reference, missense
rs28936674 Pathogenic, Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110], Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] 53,210,194(+) AGCCA(A/G)AAGTG reference, missense
rs515726174 Pathogenic, Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] 53,210,315(+) GGATA(C/T)GTCCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CPT2 Gene

Variant ID Type Subtype PubMed ID
esv2422213 CNV duplication 17116639
nsv1001535 CNV gain 25217958
nsv829871 CNV loss 17160897

Variation tolerance for CPT2 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.08; 87.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPT2 Gene

Human Gene Mutation Database (HGMD)
CPT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT2 Gene

Disorders for CPT2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CPT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy due to cpt ii deficiency
  • carnitine palmitoyltransferase ii deficiency, late-onset
cpt deficiency, hepatic, type ii
  • carnitine palmitoyltransferase ii deficiency, infantile
cpt ii deficiency, lethal neonatal
  • carnitine palmitoyltransferase ii deficiency, lethal neonatal
encephalopathy, acute, infection-induced, 4
  • encephalopathy, acute, infection-induced, susceptibility to, 4
carnitine palmitoyltransferase ii deficiency
  • carnitine palmitoyltransferase ii deficiency, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search CPT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CPT2_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.
  • 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:7711730, ECO:0000269 PubMed:8358442, ECO:0000269 PubMed:8651281, ECO:0000269 PubMed:9600456, ECO:0000269 PubMed:9758712, ECO:0000269 Ref.13, ECO:0000269 Ref.17}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 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). {ECO:0000269 PubMed:21697855}.

Genatlas disease for CPT2 Gene

non ketotic hypoglycemia,liver failure,cardiomyopathy,peripheral myopathy in infant with severe outcome,and,in adult,myopathy with cramps,stiffness and myoglobinuria triggered by exercice,fasting and other metabolic stresses

Relevant External Links for CPT2

Genetic Association Database (GAD)
CPT2
Human Genome Epidemiology (HuGE) Navigator
CPT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CPT2
genes like me logo Genes that share disorders with CPT2: view

Publications for CPT2 Gene

  1. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. (PMID: 18306170) Yao D. … Kido H. (Hum. Mutat. 2008) 3 4 22 64
  2. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PMID: 15622536) Oerngreen M.C. … Vissing J. (Ann. Neurol. 2005) 3 4 22 64
  3. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PMID: 14605500) Olpin S.E. … Pollitt R.J. (J. Inherit. Metab. Dis. 2003) 3 4 22 64
  4. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (PMID: 14615409) Sigauke E. … Bennett M.J. (Lab. Invest. 2003) 3 4 22 64
  5. Antenatal presentation of carnitine palmitoyltransferase II deficiency. (PMID: 11477613) Elpeleg O.N. … Nadjari M. (Am. J. Med. Genet. 2001) 3 4 22 64

Products for CPT2 Gene

Sources for CPT2 Gene

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