LP101445-7
SLC22A5 gene
Active
Descriptions
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in SLC22A5 gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy 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, Wikipedia
The SLC22A5 gene (solute carrier family 22 (organic cation/carnitine transporter), member 5) [HGNC Gene ID:10969] is located on chromosome 5q23.3. Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6584] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- SLC22A5 gene
- Part Display Name
- SLC22A5 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-08-03
- Construct for LOINC Short Name
- SLC22A5 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SLC22A5 基因 Synonyms: CDSP; |
| et-EE | Estonian (Estonia) | SLC22A5 geen |
| es-ES | Spanish (Spain) | Gen SLC22A5 |
| it-IT | Italian (Italy) | SLC22A5, gene Synonyms: Gene SLC22A5 |
| tr-TR | Turkish (Turkey) | SLC22A5 geni |
| ru-RU | Russian (Russian Federation) | SLC22A5 ген |
| nl-NL | Dutch (Netherlands) | SLC22A5-gen Synonyms: SLC22A5 gen |
| fr-FR | French (France) | SLC22A5 gène |
| pl-PL | Polish (Poland) | SLC22A5 gen Synonyms: Gen SLC22A5 |
| el-GR | Greek (Greece) | Γονίδιο SLC22A5 Synonyms: Γονίδιο SLC22A5 |
LOINC Copyright
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