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Gene : ACAT1 Homo sapiens

Name  ? acetyl-CoA acetyltransferase 1 Cytological Location  11q22.3
Brief Description  acetyl-CoA acetyltransferase 1
description  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]
  • synonyms:
  • D90228,
  • OTTHUMG00000166381,
  • T2,
  • THIL,
  • NM_000019,
  • ACAT1,
  • ACAT,
  • acetoacetyl Coenzyme A thiolase,
  • ACAT,
  • acetyl-Coenzyme A acetyltransferase 1,
  • THIL,
  • uc001pjy.4,
  • MAT,
  • HGNC:93
  • identifiers:
  • 38,
  • ENSG00000075239,
  • ACAT1

Genome feature

Region: gene ? Length: 32118  
Location: 11:108116705-108148822 Cyto location: 11q22.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

2011 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results