LP199559-8
Creatine transport protein
Active
Description
Creatine transport protein is encoded by the SLC6A8 gene, located on chromosome region Xq28, and is a sodium-dependent transporter that mediates the uptake of creatine into myocytes (muscle cells). Myocytes cannot synthesize creatine and therefore rely on the creatine transporter. Defects in the transporter cause cerebral creatine deficiency syndrome 1, an X-linked disorder characterized by significant cognitive impairment, behavioral abnormalities, and seizures. Patients with this disorder have significantly decreased transporter activity. [OMIM: 300352] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Creatine transport protein
- Part Display Name
- Creatine transport protein
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-07-24
- Construct for LOINC Short Name
- CrT protein
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 肌酸转运蛋白 Synonyms: 肌酸转运（运输、 |
| es-ES | Spanish (Spain) | Proteina transportadora de creatina |
| it-IT | Italian (Italy) | Proteina di trasporto di creatina |
| tr-TR | Turkish (Turkey) | Kreatin transport proteini Synonyms: Kreatin taşıyıcı protein |
| nl-NL | Dutch (Netherlands) | creatinetransportproteïne |
| fr-FR | French (France) | Créatine protéine de transport |
| pl-PL | Polish (Poland) | Białko transportujące kreatynę |
| el-GR | Greek (Greece) | Πρωτεΐνη μεταφοράς κρεατινίνης Synonyms: Πρωτεΐνη μεταφοράς κρεατινίνης |
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://