GENETIC ENCYCLOPEDIA
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gene: ACAT1

id38
symbolACAT1
organismHomo sapiens
full nameacetyl-CoA acetyltransferase 1
summaryThis 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]
variant-disease

NM_000019.4(ACAT1):c.-15C>G AND not specified

NM_000019.3(ACAT1):c.941-7delT AND not provided

NM_000019.4(ACAT1):c.203G>T (p.Gly68Val) AND not provided

NM_000019.4(ACAT1):c.444_445del (p.Met148fs) AND Deficiency of acetyl-CoA acetyltransferase

NM_000019.4(ACAT1):c.730+2T>C AND not provided

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