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Description

The CACT gene (solute carrier family 25 (carnitine/acylcarnitine translocase), member 20) gene is located on chromosome 3p21.31. This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008] [NCBI Gene ID:788] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
CACT gene
Part Display Name
CACT gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
CACT gene

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71411-0
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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)CACT 基因
Synonyms: 肉毒碱脂酰转移酶基因;肉碱脂酰转移酶基因;Carnitine-acylcarnitine translocase gene
et-EEEstonian (Estonia)CACT geen
es-ESSpanish (Spain)Gen CACT
it-ITItalian (Italy)CACT, gene
Synonyms: Gene CACT
tr-TRTurkish (Turkey)CACT geni
ru-RURussian (Russian Federation)CACT ген
nl-NLDutch (Netherlands)CACT-gen
Synonyms: CACT gen
fr-FRFrench (France)CACT gène
pl-PLPolish (Poland)CACT gen
Synonyms: Gen CACT
el-GRGreek (Greece)Γονίδιο CACT
Synonyms: Γονίδιο CACT