LP183583-6
ACAT1 gene
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Descriptions
Acetyl-CoA acetyltransferase 1 (ACAT1) 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. Testing methods such as sequencing and deletion/duplication analysis are peformed to detect variants within the ACAT1 gene and confirm a clinical diagnosis. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, ACAT1 gene
The ACAT1 gene (acetyl-CoA acetyltransferase 1) [HGNC Gene ID:93] is located on chromosome 11q22.3. 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] [NCBI Gene ID:38] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- ACAT1 gene
- Part Display Name
- ACAT1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-04-01
- Construct for LOINC Short Name
- ACAT1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ACAT1 基因 Synonyms: acetyl-Coenzyme A acetyltransferase 1; |
| es-ES | Spanish (Spain) | Gen ACT1 |
| it-IT | Italian (Italy) | ACAT1, gene Synonyms: Gene ACAT1 |
| tr-TR | Turkish (Turkey) | ACAT1 geni |
| ru-RU | Russian (Russian Federation) | ACAT1 ген |
| nl-NL | Dutch (Netherlands) | ACAT1-gen Synonyms: ACAT1 gen |
| fr-FR | French (France) | ACAT1 gène |
| pl-PL | Polish (Poland) | ACAT1 gen Synonyms: Gen ACAT1 |
| el-GR | Greek (Greece) | Γονίδιο ACAT1 Synonyms: Γονίδιο ACAT1 |
LOINC Copyright
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