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Aliases for CPT1A Gene

Aliases for CPT1A Gene

  • Carnitine Palmitoyltransferase 1A 2 3 4 5
  • Carnitine O-Palmitoyltransferase I, Liver Isoform 3 4
  • Carnitine Palmitoyltransferase 1A (Liver) 2 3
  • CPT1-L 3 4
  • CPTI-L 3 4
  • CPT I 3 4
  • CPT1 3 4
  • Carnitine O-Palmitoyltransferase 1, Liver Isoform 3
  • Carnitine Palmitoyltransferase I, Liver 3
  • EC 2.3.1.21 4
  • L-CPT1 3

External Ids for CPT1A Gene

Previous HGNC Symbols for CPT1A Gene

  • CPT1

Previous GeneCards Identifiers for CPT1A Gene

  • GC11M071048
  • GC11M070218
  • GC11M068300
  • GC11M068279
  • GC11M068524
  • GC11M064859

Summaries for CPT1A Gene

Entrez Gene Summary for CPT1A Gene

  • The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CPT1A Gene

CPT1A (Carnitine Palmitoyltransferase 1A) is a Protein Coding gene. Diseases associated with CPT1A include Carnitine Palmitoyltransferase I Deficiency and Carnitine Palmitoyltransferase Ii Deficiency, Infantile. Among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and PPAR Alpha Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1B.

UniProtKB/Swiss-Prot for CPT1A Gene

  • Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.

Additional gene information for CPT1A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPT1A Gene

Genomics for CPT1A Gene

GeneHancer (GH) Regulatory Elements for CPT1A Gene

Promoters and enhancers for CPT1A 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
GH11J068836 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +3.7 3666 8.1 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 CPT1A IGHMBP2 PPP6R3 LTO1 KMT5B MRGPRF-AS1 MRGPRF ENSG00000260808 TPCN2 ENSG00000261625
GH11J068844 Enhancer 1 ENCODE 650.7 -0.8 -780 0.7 FOXA2 ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 ATF7 NFKBIZ CPT1A IGHMBP2 LOC105369364
GH11J068854 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.9 -12.1 -12099 4.5 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 SP5 ZHX2 MXD4 IGHMBP2 LOC105369364 TESMIN MRPL21 CPT1A
GH11J068827 Enhancer 1 FANTOM5 Ensembl dbSUPER 2.4 +15.6 15609 2 CTCF POLR2A MAX EBF1 MYC SPI1 GABPA IGHMBP2 LOC105369364 CPT1A TESMIN GC11P068804
GH11J068869 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 0.3 -25.9 -25867 1 HDAC1 BCOR GTF2F1 CTCF TAL1 CDC5L RAD21 TEAD3 TCF12 GATA3 LOC105369364 IGHMBP2 MRPL21 TESMIN MRGPRF-AS1 MRGPRF CPT1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPT1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CPT1A gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2

Genomic Locations for CPT1A Gene

Genomic Locations for CPT1A Gene
chr11:68,754,620-68,844,410
(GRCh38/hg38)
Size:
89,791 bases
Orientation:
Minus strand
chr11:68,522,088-68,611,878
(GRCh37/hg19)
Size:
89,791 bases
Orientation:
Minus strand

Genomic View for CPT1A Gene

Genes around CPT1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPT1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPT1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPT1A Gene

Proteins for CPT1A Gene

  • Protein details for CPT1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50416-CPT1A_HUMAN
    Recommended name:
    Carnitine O-palmitoyltransferase 1, liver isoform
    Protein Accession:
    P50416
    Secondary Accessions:
    • Q8TCU0
    • Q9BWK0

    Protein attributes for CPT1A Gene

    Size:
    773 amino acids
    Molecular mass:
    88368 Da
    Quaternary structure:
    • Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CPT1A Gene

    Alternative splice isoforms for CPT1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPT1A Gene

Post-translational modifications for CPT1A Gene

  • Ubiquitination at posLast=195195, Lys180, Lys161, and Lys86
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CPT1A Gene

Domains & Families for CPT1A Gene

Gene Families for CPT1A Gene

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

Protein Domains for CPT1A Gene

Suggested Antigen Peptide Sequences for CPT1A Gene

Graphical View of Domain Structure for InterPro Entry

P50416

UniProtKB/Swiss-Prot:

CPT1A_HUMAN :
  • A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.
  • Belongs to the carnitine/choline acetyltransferase family.
Domain:
  • A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.
Family:
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CPT1A: view

Function for CPT1A Gene

Molecular function for CPT1A Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by malonyl-CoA.
UniProtKB/Swiss-Prot Induction:
Up-regulated by fatty acids.
GENATLAS Biochemistry:
carnitine palmitoyltransferase of the outer mitochondrial membrane 1A,88kDa,malonyl CoA sensitive,liver isoform,generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)

Enzyme Numbers (IUBMB) for CPT1A Gene

Phenotypes From GWAS Catalog for CPT1A Gene

Gene Ontology (GO) - Molecular Function for CPT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004095 carnitine O-palmitoyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0042802 identical protein binding IEA --
GO:1990698 palmitoleoyltransferase activity IEA --
genes like me logo Genes that share ontologies with CPT1A: view
genes like me logo Genes that share phenotypes with CPT1A: view

Human Phenotype Ontology for CPT1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CPT1A Gene

MGI Knock Outs for CPT1A:

Animal Model Products

miRNA for CPT1A Gene

miRTarBase miRNAs that target CPT1A

Clone Products

  • Addgene plasmids for CPT1A

No data available for Transcription Factor Targets and HOMER Transcription for CPT1A Gene

Localization for CPT1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPT1A Gene

Mitochondrion outer membrane; Multi-pass membrane protein.

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 CPT1A gene
Compartment Confidence
mitochondrion 5
peroxisome 4
nucleus 2
endoplasmic reticulum 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CPT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA 11350182
GO:0005741 mitochondrial outer membrane TAS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CPT1A: view

Pathways & Interactions for CPT1A Gene

genes like me logo Genes that share pathways with CPT1A: view

UniProtKB/Swiss-Prot P50416-CPT1A_HUMAN

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

Gene Ontology (GO) - Biological Process for CPT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IDA 11350182
GO:0006006 glucose metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS,IEA --
genes like me logo Genes that share ontologies with CPT1A: view

No data available for SIGNOR curated interactions for CPT1A Gene

Drugs & Compounds for CPT1A Gene

(28) Drugs for CPT1A Gene - From: DrugBank, 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, activator 0
Glyburide Approved Pharma Channel blocker, Inhibitor, Inhibition, Target, inhibitor Kir6 (KATP) channel blocker 116
Glycerol Approved, Investigational Pharma 175
Coenzyme A Investigational Nutra 0

(22) Additional Compounds for CPT1A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
Triglycerides Group A
  • 1-Palmitoyl-2-stearoyl-3-arachidonoyl-glycerol
  • TAG(16:0/18:0/20:4)
  • TAG(16:0/18:0/20:4n6)
  • TAG(16:0/18:0/20:4W6)
  • TAG(54:4)
Triglycerides Group B
  • 1-Myristoyl-2-pentadecanoyl-3-nervonoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-(15Z-tetracosanoyl)-glycerol
  • TAG(14:0/15:0/24:1)
  • TAG(53:1)
  • TG(14:0/15:0/24:1)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
genes like me logo Genes that share compounds with CPT1A: view

Transcripts for CPT1A Gene

Unigene Clusters for CPT1A Gene

Carnitine palmitoyltransferase 1A (liver):
Representative Sequences:

Clone Products

  • Addgene plasmids for CPT1A

Alternative Splicing Database (ASD) splice patterns (SP) for CPT1A Gene

No ASD Table

Relevant External Links for CPT1A Gene

GeneLoc Exon Structure for
CPT1A
ECgene alternative splicing isoforms for
CPT1A

Expression for CPT1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPT1A Gene

Protein differential expression in normal tissues from HIPED for CPT1A Gene

This gene is overexpressed in Nasal epithelium (13.6) and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPT1A Gene



Protein tissue co-expression partners for CPT1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPT1A Gene:

CPT1A

SOURCE GeneReport for Unigene cluster for CPT1A Gene:

Hs.503043

mRNA Expression by UniProt/SwissProt for CPT1A Gene:

P50416-CPT1A_HUMAN
Tissue specificity: Strong expression in kidney and heart, and lower in liver and skeletal muscle.

Evidence on tissue expression from TISSUES for CPT1A Gene

  • Liver(4.7)
  • Eye(4.3)
  • Heart(2.6)
  • Blood(2.4)
  • Muscle(2.4)
  • Intestine(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CPT1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with CPT1A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CPT1A Gene

Orthologs for CPT1A Gene

This gene was present in the common ancestor of animals.

Orthologs for CPT1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPT1A 34 33
  • 99.31 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CPT1A 34
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CPT1A 34 33
  • 85.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CPT1A 34 33
  • 85.47 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPT1A 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cpt1a 16 34 33
  • 81.89 (n)
rat
(Rattus norvegicus)
Mammalia Cpt1a 33
  • 81.54 (n)
chicken
(Gallus gallus)
Aves CPT1A 34 33
  • 73.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CPT1A 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490391 33
  • 73.84 (n)
Str.5281 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53498 33
zebrafish
(Danio rerio)
Actinopterygii CPT1A (3 of 3) 34
  • 71 (a)
OneToMany
cpt1a 34
  • 70 (a)
OneToMany
si:ch211-236l14.3 33
  • 68.56 (n)
CABZ01055343.2 34
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CPTI 35
  • 50 (a)
whd 34
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y46G5A.17 35
  • 48 (a)
cpt-1 34
  • 45 (a)
OneToMany
W03F9.4 35
  • 38 (a)
W01A11.5 35
  • 35 (a)
K11D12.4 35
  • 34 (a)
Y48G9A.10 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToMany
Cin.3088 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3088 33
Species where no ortholog for CPT1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 CPT1A Gene

ENSEMBL:
Gene Tree for CPT1A (if available)
TreeFam:
Gene Tree for CPT1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPT1A: view image

Paralogs for CPT1A Gene

Paralogs for CPT1A Gene

(4) SIMAP similar genes for CPT1A Gene using alignment to 6 proteins:

  • CPT1A_HUMAN
  • H3BMD2_HUMAN
  • H3BP22_HUMAN
  • H3BUJ0_HUMAN
  • H3BUV7_HUMAN
  • Q8WZ48_HUMAN
genes like me logo Genes that share paralogs with CPT1A: view

Variants for CPT1A Gene

Sequence variations from dbSNP and Humsavar for CPT1A Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1055176086 likely-pathogenic, Carnitine palmitoyltransferase I deficiency 68,799,217(-) C/G splice_donor_variant
rs1057516304 likely-pathogenic, Carnitine palmitoyltransferase I deficiency 68,781,825(-) T/ coding_sequence_variant, frameshift
rs1057516396 likely-pathogenic, Carnitine palmitoyltransferase I deficiency 68,793,363(-) G/A coding_sequence_variant, stop_gained
rs1057516434 likely-pathogenic, Carnitine palmitoyltransferase I deficiency 68,812,532(-) C/T coding_sequence_variant, stop_gained
rs1057516586 likely-pathogenic, Carnitine palmitoyltransferase I deficiency 68,773,294(-) G/A coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for CPT1A Gene

Variant ID Type Subtype PubMed ID
esv2664873 CNV deletion 23128226
esv2744667 CNV deletion 23290073
esv3626741 CNV loss 21293372
nsv1122639 CNV deletion 24896259
nsv1133169 CNV tandem duplication 24896259
nsv1134152 CNV deletion 24896259
nsv1144574 CNV deletion 24896259
nsv373 CNV deletion 18451855
nsv428261 CNV gain 18775914
nsv509422 CNV insertion 20534489
nsv825967 CNV loss 20364138
nsv825968 CNV loss 20364138
nsv825969 CNV gain 20364138

Variation tolerance for CPT1A Gene

Residual Variation Intolerance Score: 38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPT1A Gene

Human Gene Mutation Database (HGMD)
CPT1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPT1A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT1A Gene

Disorders for CPT1A Gene

MalaCards: The human disease database

(6) MalaCards diseases for CPT1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carnitine palmitoyltransferase i deficiency
  • carnitine palmitoyltransferase ia deficiency
carnitine palmitoyltransferase ii deficiency, infantile
  • carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia
carnitine-acylcarnitine translocase deficiency
  • cactd
visceral steatosis
  • fatty metamorphosis of viscera
hypoglycemia
  • hypoglycaemia
- elite association - COSMIC cancer census association via MalaCards
Search CPT1A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CPT1A_HUMAN
  • Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. {ECO:0000269 PubMed:11350182, ECO:0000269 PubMed:11441142, ECO:0000269 PubMed:12111367, ECO:0000269 PubMed:12189492, ECO:0000269 PubMed:14517221, ECO:0000269 PubMed:15110323, ECO:0000269 PubMed:15669684, ECO:0000269 PubMed:9691089}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CPT1A Gene

non ketotic hypoglycemia,infant form,Reye-like syndrome,sudden infant death syndrome

Additional Disease Information for CPT1A

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 CPT1A: view

Publications for CPT1A Gene

  1. Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. (PMID: 14711372) Morillas M … Asins G (The Biochemical journal 2004) 3 4 22 25 58
  2. Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. (PMID: 7892212) Britton CH … McGarry JD (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 22 58
  3. Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians. (PMID: 17089095) Robitaille J … Vohl MC (Journal of molecular medicine (Berlin, Germany) 2007) 3 22 44 58
  4. Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus. (PMID: 17445541) Hirota Y … Kasuga M (Metabolism: clinical and experimental 2007) 3 22 44 58
  5. Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. (PMID: 16697732) Huang H … Wright TL (Gastroenterology 2006) 3 22 44 58

Products for CPT1A Gene

Sources for CPT1A Gene