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CPT2 Gene(Protein Coding)

Carnitine Palmitoyltransferase 2

GCID:
GC01P053196
GIFtS:
55
Genes Participants
UDN Logo

Aliases for CPT2 Gene

Aliases for CPT2 Gene

  • Carnitine Palmitoyltransferase 2 2 3 5
  • Carnitine Palmitoyltransferase II 2 3 4
  • CPT II 3 4
  • CPT1 3 4
  • Carnitine O-Palmitoyltransferase 2, Mitochondrial 3
  • Testicular Secretory Protein Li 13 3
  • EC 2.3.1.21 4
  • 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 Carnitine Palmitoyltransferase Ii Deficiency, Infantile and Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced. Among its related pathways are PPAR Alpha Pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity.

Gene Wiki entry for CPT2 Gene

Additional gene information 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CPT2 Gene

Promoters and enhancers for CPT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J053195 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 656.3 +0.8 818 3.6 HDGF PKNOX1 FOXA2 SMAD1 ARNT SIN3A FEZF1 YY1 POLR2B E2F8 CPT2 C1orf123 MAGOH PIR34935
GH01J053245 Enhancer 0.6 ENCODE 10.6 +50.3 50264 1.4 SP1 BCL11A MEF2B BCLAF1 ATF2 RUNX3 CREM SPI1 C1orf123 CPT2 ENSG00000232762 GC01M053244 LOC105378728 LRP8
GH01J053154 Enhancer 0.6 dbSUPER 10.4 -40.7 -40658 3.4 TFAP4 ZNF680 HLF ZNF10 KAT7 CEBPB ERF ZBTB25 CEBPG RAD21 CPT2 SLC1A7 PODN LOC105378724
GH01J053249 Enhancer 0.4 ENCODE 9.9 +53.4 53393 1.6 YBX3 POLR2A ZNF366 C1orf123 LRP8 LINC01771 CPT2 LOC105378728 GC01M053244
GH01J053165 Enhancer 0.7 ENCODE 4.2 -30.6 -30587 1.4 BCOR ZMYM3 CEBPG RAD21 ZKSCAN1 ADNP SMARCA5 RXRA CEBPB SP1 SLC1A7 PODN CPT2 LOC105378724
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CPT2 gene promoter:
  • HTF
  • LHX3b
  • Lhx3a
  • AREB6
  • POU2F1
  • POU2F1a
  • AP-1
  • c-Fos
  • c-Jun
  • FosB

Genomic Locations for CPT2 Gene

Genomic Locations for CPT2 Gene
chr1:53,196,429-53,214,197
(GRCh38/hg38)
Size:
17,769 bases
Orientation:
Plus strand
chr1:53,662,101-53,679,869
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for CPT2 Gene

Proteins for CPT2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CPT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CPT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CPT2 Gene

Domains & Families for CPT2 Gene

Gene Families for CPT2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CPT2 Gene

Blocks:
InterPro:
ProtoNet:

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

Function for CPT2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CPT2 Gene

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

Enzyme Numbers (IUBMB) for CPT2 Gene

Phenotypes From GWAS Catalog 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 Cpt2<tm1b(KOMP)Wtsi>

Animal Model Products

miRNA for CPT2 Gene

miRTarBase miRNAs that target CPT2

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

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:0006853 carnitine shuttle TAS --
GO:0019216 regulation of lipid metabolic process 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Perhexiline Approved, Investigational Pharma inhibitor, Target 8
L-Carnitine Approved, Investigational Pharma Target 0
Glycerol Approved, Investigational Pharma 175
Caprylic acid Approved, Experimental, Investigational Pharma 0
lauric acid Approved, Experimental Pharma Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,8 Dimethylnonanoyl carnitine
  • 4,8-Dimethylnonanoylcarnitine
Caproic acid
  • 1-Hexanoic acid
  • 1-Pentanecarboxylic acid
  • 6:0
  • Butylacetic acid
  • C6:0
 142-62-1
hexadecanoyl-CoA
  • coenzyme A, S-Hexadecanoate
  • Palmitoyl coenzyme A
  • S-Palmitoylcoenzyme A
  • coenzyme A, S-Hexadecanoic acid
L-Palmitoylcarnitine
  • (3R)-3-(Hexadecanoyloxy)-4-(trimethylazaniumyl)butanoate
  • (3R)-3-Palmitoyloxy-4-(trimethylammonio)butanoate
  • Hexadecanoyl-L-carnitine
  • Hexadecanoylcarnitine
  • Hexadecenoyl carnitine
 2364-67-2
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme A
  • Palmitoyl-CoA
 1763-10-6
genes like me logo Genes that share compounds with CPT2: view

Transcripts for CPT2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CPT2 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(138) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CPT2 Gene

Carnitine palmitoyltransferase 2:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CPT2 Gene
mRNA expression by GTEx for CPT2 GenemRNA expression by BioGPS 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, 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(2.3)
  • Blood(2.1)
  • Kidney(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
Regions:
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

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 33
  • 99.44 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CPT2 34 33
  • 88.8 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CPT2 34 33
  • 88.05 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cpt2 16 34 33
  • 86.32 (n)
rat
(Rattus norvegicus)
 Mammalia Cpt2 33
  • 85.01 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CPT2 34
  • 75 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CPT2 34
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CPT2 34 33
  • 72.92 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CPT2 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cpt2 33
  • 69.34 (n)
MGC76152 33
African clawed frog
(Xenopus laevis)
 Amphibia cg2107-prov 33
zebrafish
(Danio rerio)
 Actinopterygii cpt2 34 33
  • 67.19 (n)
 OneToOne
-- 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008907 33
  • 54.71 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG2107 34 35 33
  • 53.43 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea cpt-2 34 33
  • 50.55 (n)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AER224W 33
  • 46.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YAT1 36 34 33
  • 45.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C04169g 33
  • 44.15 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU01611 33
  • 49.4 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CPT2: view image

Paralogs for CPT2 Gene

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

  • CPT2_HUMAN

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CPT2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1029016956 uncertain-significance, Carnitine palmitoyltransferase II deficiency 53,196,827(+) G/T 5_prime_UTR_variant
rs1040318543 uncertain-significance, Carnitine palmitoyltransferase II deficiency 53,213,476(+) T/C coding_sequence_variant, missense_variant
rs1044059386 uncertain-significance, Carnitine palmitoyltransferase II deficiency 53,196,978(+) G/A/C coding_sequence_variant, missense_variant
rs1056438 benign, Carnitine palmitoyltransferase II deficiency 53,214,206(+) T/C downstream_transcript_variant
rs1057517473 likely-pathogenic, Carnitine palmitoyltransferase II deficiency, infantile, Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 53,211,321(+) T/G intron_variant, splice_donor_variant

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)

Additional Variant Information for CPT2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CPT2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
carnitine palmitoyltransferase ii deficiency, infantile
  • carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia
carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced
  • carnitine palmitoyltransferase ii deficiency, myopathic
carnitine palmitoyltransferase ii deficiency, lethal neonatal
  • carnitine palmitoyltransferase ii deficiency, neonatal
encephalopathy, acute, infection-induced 4
  • encephalopathy, acute, infection-induced, susceptibility to, 4
myoglobinuria
- 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, 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.
  • 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.
  • 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

Additional Disease Information for CPT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human mutation 2008) 3 4 22 58
  2. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PMID: 15622536) Ørngreen MC … Vissing J (Annals of neurology 2005) 3 4 22 58
  3. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PMID: 14605500) Olpin SE … Pollitt RJ (Journal of inherited metabolic disease 2003) 3 4 22 58
  4. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (PMID: 14615409) Sigauke E … Bennett MJ (Laboratory investigation; a journal of technical methods and pathology 2003) 3 4 22 58
  5. Antenatal presentation of carnitine palmitoyltransferase II deficiency. (PMID: 11477613) Elpeleg ON … Nadjari M (American journal of medical genetics 2001) 3 4 22 58

Products for CPT2 Gene

Sources for CPT2 Gene

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