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Aliases for ACAT1 Gene

Aliases for ACAT1 Gene

  • Acetyl-CoA Acetyltransferase 1 2 3 5
  • Acetyl-Coenzyme A Acetyltransferase 1 2 3
  • Acetoacetyl Coenzyme A Thiolase 2 3
  • Acetoacetyl-CoA Thiolase 3 4
  • ACAT 3 4
  • MAT 3 4
  • T2 3 4
  • Acetyl-CoA Acetyltransferase, Mitochondrial 3
  • Mitochondrial Acetoacetyl-CoA Thiolase 3
  • Testicular Tissue Protein Li 198 3
  • EC 2.3.1.9 4
  • THIL 3

External Ids for ACAT1 Gene

Previous HGNC Symbols for ACAT1 Gene

  • ACAT

Previous GeneCards Identifiers for ACAT1 Gene

  • GC11P110186
  • GC11P109348
  • GC11P108026
  • GC11P107529
  • GC11P107499
  • GC11P103917
  • GC11P107992

Summaries for ACAT1 Gene

Entrez Gene Summary for ACAT1 Gene

  • This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

GeneCards Summary for ACAT1 Gene

ACAT1 (Acetyl-CoA Acetyltransferase 1) is a Protein Coding gene. Diseases associated with ACAT1 include Alpha-Methylacetoacetic Aciduria and Taqi Polymorphism. Among its related pathways are superpathway of tryptophan utilization and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ACAT2.

UniProtKB/Swiss-Prot for ACAT1 Gene

  • Plays a major role in ketone body metabolism.

Gene Wiki entry for ACAT1 Gene

Additional gene information for ACAT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAT1 Gene

Genomics for ACAT1 Gene

GeneHancer (GH) Regulatory Elements for ACAT1 Gene

Promoters and enhancers for ACAT1 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
GH11J108120 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 681.2 +0.2 190 2.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ACAT1 ENSG00000255467 DDX10 KDELC2 ATM
GH11J108219 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23 +104.3 104345 12.2 MLX DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 NFYC NPAT ATM ACAT1 CWF19L2 DDX10 KDELC2 ENSG00000255467 C11orf65 ENSG00000206967 GC11M108232
GH11J108233 Enhancer 1.3 Ensembl ENCODE dbSUPER 28 +117.1 117089 11.1 FOXA2 BATF IRF4 ZNF48 RARA SMARCC2 ATF7 ETV6 BCLAF1 IKZF2 ACAT1 ATM ENSG00000255467 DDX10 C11orf65 KDELC2 ENSG00000206967 GC11M108232 PIR35860
GH11J108114 Enhancer 0.9 Ensembl ENCODE 29.6 -5.8 -5807 1.8 FOXA2 MAX RAD21 YY1 ZNF366 EGR1 ZNF600 RXRA REST ATF2 ACAT1 ENSG00000255467 ENSG00000200855
GH11J108496 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.6 +376.3 376344 3.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 KDELC2 LOC101928561 NPAT DDX10 ACAT1 ATM C11orf65
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACAT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACAT1 gene promoter:
  • GR-beta
  • GR-alpha
  • GR
  • FOXL1
  • COMP1
  • Hlf
  • AREB6
  • Cdc5
  • FOXO1a
  • FOXO1

Genomic Locations for ACAT1 Gene

Genomic Locations for ACAT1 Gene
chr11:108,121,516-108,148,168
(GRCh38/hg38)
Size:
26,653 bases
Orientation:
Plus strand
chr11:107,992,243-108,018,895
(GRCh37/hg19)
Size:
26,653 bases
Orientation:
Plus strand

Genomic View for ACAT1 Gene

Genes around ACAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAT1 Gene

Proteins for ACAT1 Gene

  • Protein details for ACAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24752-THIL_HUMAN
    Recommended name:
    Acetyl-CoA acetyltransferase, mitochondrial
    Protein Accession:
    P24752
    Secondary Accessions:
    • B2R6H1
    • G3XAB4
    • Q96FG8

    Protein attributes for ACAT1 Gene

    Size:
    427 amino acids
    Molecular mass:
    45200 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ACAT1 Gene

    Alternative splice isoforms for ACAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACAT1 Gene

Post-translational modifications for ACAT1 Gene

  • Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACAT1 Gene

Domains & Families for ACAT1 Gene

Gene Families for ACAT1 Gene

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

Protein Domains for ACAT1 Gene

Suggested Antigen Peptide Sequences for ACAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P24752

UniProtKB/Swiss-Prot:

THIL_HUMAN :
  • Belongs to the thiolase family.
Family:
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with ACAT1: view

Function for ACAT1 Gene

Molecular function for ACAT1 Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in ketone body metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
2 acetyl-CoA = CoA + acetoacetyl-CoA.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by potassium ions, but not sodium ions.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4 uM for acetoacetyl coenzyme A {ECO:0000269 PubMed:17371050}; KM=20 uM for coenzyme A {ECO:0000269 PubMed:17371050}; KM=8 uM for 2-methylacetoacetyl coenzyme A {ECO:0000269 PubMed:17371050}; KM=508 uM for acetyl coenzyme A {ECO:0000269 PubMed:17371050};
GENATLAS Biochemistry:
acetoacetyl-CoA thiolase 1,branched chain,mitochondrial,isoleucine catabolism,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACAT1 Gene

Phenotypes From GWAS Catalog for ACAT1 Gene

Gene Ontology (GO) - Molecular Function for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003985 acetyl-CoA C-acetyltransferase activity TAS,IMP 1979337
GO:0003988 acetyl-CoA C-acyltransferase activity IBA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with ACAT1: view
genes like me logo Genes that share phenotypes with ACAT1: view

Human Phenotype Ontology for ACAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ACAT1 Gene

Clone Products

  • Addgene plasmids for ACAT1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACAT1 Gene

Localization for ACAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAT1 Gene

Mitochondrion.

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 ACAT1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ACAT1: view

Pathways & Interactions for ACAT1 Gene

genes like me logo Genes that share pathways with ACAT1: view

Gene Ontology (GO) - Biological Process for ACAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006085 acetyl-CoA biosynthetic process IDA 17371050
GO:0006550 isoleucine catabolic process TAS 17371050
GO:0006635 fatty acid beta-oxidation IBA --
GO:0006696 ergosterol biosynthetic process IBA --
genes like me logo Genes that share ontologies with ACAT1: view

No data available for SIGNOR curated interactions for ACAT1 Gene

Drugs & Compounds for ACAT1 Gene

(10) Drugs for ACAT1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulfasalazine Approved Pharma Inhibition, Inhibitor, inhibitor, Target NF-κB activation inhibitor 63
cannabidiol Approved, Investigational Pharma Partial agonist, Agonist, Antagonist, Channel blocker, Activator, Enzyme 0
Nabiximols Approved, Investigational Pharma Enzyme 0
Vayarin Approved, Investigational Pharma Enzyme 0
Medical Cannabis Experimental, Investigational Pharma Enzyme 0

(4) Additional Compounds for ACAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
3-Oxohexanoyl-CoA
  • 3-Ketohexanoyl coa.
  • 3-Ketohexanoyl coenzyme A.
  • 3-Oxohexanoyl-coenzyme A
  • Ketohexanoyl-CoA
  • Ketohexanoyl-coenzyme A
19774-86-8
Butyryl-CoA
  • Butanoyl-CoA
  • Butanoyl-coenzyme A
  • Butyryl-coenzyme A
2140-48-9
genes like me logo Genes that share compounds with ACAT1: view

Transcripts for ACAT1 Gene

Unigene Clusters for ACAT1 Gene

Acetyl-CoA acetyltransferase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for ACAT1

Alternative Splicing Database (ASD) splice patterns (SP) for ACAT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: -
SP5: - -
SP6:

Relevant External Links for ACAT1 Gene

GeneLoc Exon Structure for
ACAT1
ECgene alternative splicing isoforms for
ACAT1

Expression for ACAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACAT1 Gene

mRNA differential expression in normal tissues according to GTEx for ACAT1 Gene

This gene is overexpressed in Liver (x8.7), Heart - Left Ventricle (x4.7), and Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for ACAT1 Gene

This gene is overexpressed in Liver, secretome (7.2), Kidney (6.6), and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACAT1 Gene



Protein tissue co-expression partners for ACAT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACAT1 Gene:

ACAT1

SOURCE GeneReport for Unigene cluster for ACAT1 Gene:

Hs.232375

Evidence on tissue expression from TISSUES for ACAT1 Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Kidney(2.3)
  • Heart(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • nervous
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with ACAT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACAT1 Gene

Orthologs for ACAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACAT1 34 33
  • 99.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACAT1 34 33
  • 92.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACAT1 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acat1 16 34 33
  • 85.69 (n)
dog
(Canis familiaris)
Mammalia ACAT1 34 33
  • 85.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acat1 33
  • 84.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACAT1 34 33
  • 76.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAT1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acat1 33
  • 72.38 (n)
Str.5645 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25595 33
zebrafish
(Danio rerio)
Actinopterygii acat1 34 33
  • 71.06 (n)
OneToOne
wufb49g01 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10615 33
fruit fly
(Drosophila melanogaster)
Insecta CG10932 34 35 33
  • 59.51 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011329 33
  • 58.57 (n)
worm
(Caenorhabditis elegans)
Secernentea kat-1 34 33
  • 57.43 (n)
OneToMany
T02G5.8 35
  • 54 (a)
T02G5.7 34 35
  • 49 (a)
OneToMany
T02G5.4 35
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 36 34 33
  • 55.44 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12056g 33
  • 53.37 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR165C 33
  • 51.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACAT2 33
  • 56.79 (n)
rice
(Oryza sativa)
Liliopsida Os09g0252100 33
  • 56.13 (n)
Os.12579 33
barley
(Hordeum vulgare)
Liliopsida Hv.5436 33
corn
(Zea mays)
Liliopsida Zm.16489 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToOne
Cin.2943 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg10 33
  • 55.79 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02571 33
  • 51.98 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2943 33
Species where no ortholog for ACAT1 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)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACAT1 Gene

ENSEMBL:
Gene Tree for ACAT1 (if available)
TreeFam:
Gene Tree for ACAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACAT1: view image

Paralogs for ACAT1 Gene

Paralogs for ACAT1 Gene

(4) SIMAP similar genes for ACAT1 Gene using alignment to 6 proteins:

  • THIL_HUMAN
  • E9PKF3_HUMAN
  • E9PRQ6_HUMAN
  • G3XAB4_HUMAN
  • H0YEL7_HUMAN
  • Q96FG8_HUMAN
genes like me logo Genes that share paralogs with ACAT1: view

Variants for ACAT1 Gene

Sequence variations from dbSNP and Humsavar for ACAT1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1053027903 uncertain-significance, Deficiency of acetyl-CoA acetyltransferase 108,147,854(+) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs111376037 likely-benign, Deficiency of acetyl-CoA acetyltransferase 108,147,945(+) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs111390656 benign, likely-benign, not specified, Deficiency of acetyl-CoA acetyltransferase 108,147,395(+) CC/CCC 3_prime_UTR_variant
rs112801981 benign, Deficiency of acetyl-CoA acetyltransferase 108,148,167(+) AATTAATTAATTAA/AATTAATTAA/AATTAATTAATTAATTAA 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs113348145 benign, likely-benign, not specified, Deficiency of acetyl-CoA acetyltransferase 108,121,592(+) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ACAT1 Gene

Variant ID Type Subtype PubMed ID
nsv481229 CNV novel sequence insertion 20440878
nsv480 CNV insertion 18451855
dgv1278n100 CNV gain 25217958

Variation tolerance for ACAT1 Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.93; 83.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACAT1 Gene

Human Gene Mutation Database (HGMD)
ACAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAT1 Gene

Disorders for ACAT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACAT1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
taqi polymorphism
  • taq1
sitosterolemia
  • stsl
- elite association - COSMIC cancer census association via MalaCards
Search ACAT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THIL_HUMAN
  • 3-ketothiolase deficiency (3KTD) [MIM:203750]: An autosomal recessive inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. {ECO:0000269 PubMed:1346617, ECO:0000269 PubMed:1715688, ECO:0000269 PubMed:7728148, ECO:0000269 PubMed:9744475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACAT1 Gene

beta-ketothiolase deficiency,recurrent acidosis,ketosis with organic aciduria

Additional Disease Information for ACAT1

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 ACAT1: view

Publications for ACAT1 Gene

  1. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. (PMID: 1979337) Fukao T … Hashimoto T (The Journal of clinical investigation 1990) 2 3 4 22 58
  2. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (PMID: 20156697) Fukao T … Kondo N (Molecular genetics and metabolism 2010) 3 22 44 58
  3. Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. (PMID: 17371050) Haapalainen AM … Wierenga RK (Biochemistry 2007) 3 4 22 58
  4. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. (PMID: 9744475) Fukao T … Kondo N (Human mutation 1998) 3 4 22 58
  5. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. (PMID: 7728148) Wakazono A … Hashimoto T (Human mutation 1995) 3 4 22 58

Products for ACAT1 Gene

  • Addgene plasmids for ACAT1

Sources for ACAT1 Gene

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