LP208406-1
CTNS gene
Active
Description
The CTNS gene (cystinosin, lysosomal cystine transporter) [HGNC Gene ID:2518] is located on chromosome 17p13. This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] [NCBI Gene ID:1497] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- CTNS gene
- Part Display Name
- CTNS gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- CTNS
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CTNS 基因 Synonyms: CTNS-LSB; |
| es-ES | Spanish (Spain) | Gen CTNS |
| it-IT | Italian (Italy) | CTNS, gene Synonyms: Gene CTNS |
| nl-NL | Dutch (Netherlands) | CTNS-gen Synonyms: CTNS gen |
| fr-FR | French (France) | CTNS gène |
| pl-PL | Polish (Poland) | CTNS gen Synonyms: Gen CTNS |
| el-GR | Greek (Greece) | Γονίδιο CTNS Synonyms: Γονίδιο CTNS |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://