QuickView for ACAT1 (gene)

Gene Symbol:

ACAT1 Homo sapiens

Full name:

acetyl-CoA acetyltransferase 1

Synonyms:

ACAT, MAT, T2, THIL, acetyl-CoA acetyltransferase, mitochondrial, acetoacetyl Coenzyme A thiolase, acetoacetyl-CoA thiolase, acetyl-Coenzyme A acetyltransferase 1, mitochondrial acetoacetyl-CoA thiolase, testicular tissue protein Li 198

Genomic Location:

Chr 11: 107497468-107523485

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,...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGACCTY_ERR1_Q2

Cytogenetic Map:

11q22.3

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