Creatine transport protein:CCnt:Pt:Fibroblasts:Qn:Creatine uptake

Preferred Label : Creatine transport protein:CCnt:Pt:Fibroblasts:Qn:Creatine uptake;

LOINC status : ACTIVE;

LOINC display name : Creatine transport protein Creatine uptake assay (Fibroblast) [Catalytic activity/Mass];

LOINC long common name : Creatine transport protein [Enzymatic activity/mass] in Fibroblast by Creatine uptake assay;

LOINC short name : CrT protein Fib Creat uptake-cCnt;

LOINC description : Creatine uptake via the creatine transport protein is determined by measuring the incorporation of creatine into fibroblasts. Decreased levels are associated with mutations in the SLC6A8 gene, which encodes the creatine transporter protein. The defect is clinically manifest in muscles cells, leading to muscle weakness. Creatine uptake is effected in many cell types, including fibroblasts, which are easy to collect. Therefore fibroblasts can be used as indicators cells for the creatine uptake defect.;

Details

Origin ID

79411-5;

UMLS CUI

C4070218;

Has component
- Creatine [LOINC component]
- Creatine transport protein [LOINC component]
- Protein [LOINC component]
Has method
- Creatine uptake assay [LOINC method]
Has property
- Catalytic Content [LOINC Property]
Has system
- Fibroblast [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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