LP182361-8
CPT1A gene.c.1436C>T
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Descriptions
Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency. Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may build up in tissues, damaging the liver, heart, and brain. 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 , Carnitine palmitoyltransferase I deficiency
The c.1436C>T sequence variant is common in Alaskan natives, and has been shown to affect fasting tolerance. Source: Regenstrief LOINC , PMID: 21763168
Basic Part Properties
- Part Name
- CPT1A gene.c.1436C>T
- Part Display Name
- CPT1A gene c.1436C>T
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-01-28
- Construct for LOINC Short Name
- CPT1A c.1436C>T
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CPT1A 基因.c.1436C>T |
| ru-RU | Russian (Russian Federation) | CPT1A ген.c.1436C>T |
| it-IT | Italian (Italy) | CPT1A, gene.c.1436C>T Synonyms: Gene CPT1A c.1436C>T |
| es-ES | Spanish (Spain) | Gen de la carnitina palmitoil transferasa 1A mutación c.1436C>T |
| fr-CA | French (Canada) | Gène CPT1A.c.1436C>T |
| tr-TR | Turkish (Turkey) | CPT1A geni.c.1436C>T |
| nl-NL | Dutch (Netherlands) | CPT1A-gen.c.1436C>T Synonyms: CPT1A gen.c.1436C>T |
| el-GR | Greek (Greece) | Γονίδιο CPT1A.c.1436C>T Synonyms: Γονίδιο CPT1A.c.1436C>T |
LOINC Copyright
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