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Term 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.

Part Description

LP199559-8   Creatine transport protein
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

LOINC Names Get Info

Fully-Specified Name
Creatine transport protein:CCnt:Pt:Fibroblasts:Qn:Creatine uptake
Long Common Name
Creatine transport protein [Enzymatic activity/mass] in Fibroblast by Creatine uptake assay
Short Name
CrT protein Fib Creat uptake-cCnt
Display Name
Creatine transport protein Creatine uptake assay (Fibroblast) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Creatine transport protein, Fibroblast

Part Model Get Info

  • Component
    Creatine transport protein
    LP199559-8
    • Analyte
      Creatine transport protein
      LP199559-8
      • Component Numerator
        Creatine transport protein
        LP199559-8
        • Component Numerator Core
          Creatine transport protein
          LP199559-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    CCnt
    LP6790-2
  • Time
    Pt
    LP6960-1
  • System
    Fibroblasts
    LP7234-0
    • System Core
      Fibroblasts
      LP7234-0
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    Creatine uptake
    LP201269-0

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Kreatin transportní protein:Katalytický obsah:Časový bod:Fibroblast:Kvantitativní:Test vychytávání kreatinu
el-GRGreek (Greece)Πρωτεΐνη μεταφοράς κρεατινίνης:CCnt:Pt:Ινοβλάστες:Qn:Πρόσληψη κρεατίνης
Synonyms: CCnt CHEM Pt Qn Ινοβλάστες Κρεατίνη Πρόσληψη κρεατίνης Πρωτεΐνη Πρωτεΐνη μεταφοράς κρεατινίνης
es-ESSpanish (Spain)Proteina transportadora de creatina:Contenido catalítico:Punto temporal:Fibroblastos:Qn:Prueba de captación de creatina
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Proteína de transporte de creatina:Contenido catalítico:Punto temporal:Fibroblasto:Cuantitativo:Ensayo de captación de creatina
fr-FRFrench (France)Créatine protéine de transport:Catalytique/Masse:Ponctuel:Fibroblastes:Numérique:Créatine absorption
it-ITItalian (Italy)Proteina di trasporto di creatina:CCnt:Pt:Fibroblasti:Qn:Creatinina, uptake
Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio) Uptake della creatinina
nl-NLDutch (Netherlands)creatinetransportproteïne:enzymatische activiteit/massa:moment:fibroblast:kwantitatief:creatinine-opname
pl-PLPolish (Poland)Białko transportujące kreatynę:zawartość katalityczna:punkt w czasie:fibroblasty:ilościowy:test wychwytu kreatyny
zh-CNChinese (China)肌酸转运蛋白:催化含量:时间点:成纤维细胞:定量型:肌酸摄取法
Synonyms: Cr;甲胍;甲胍基乙酸;甲胍基醋酸;肌氨酸 PR;Prot;成分 - 化学 - 蛋白质类;蛋白;朊;蛋白质类;蛋白质类物质 催化含量(单位质量);单位质量的酶单位数 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 纤维原细胞;纤维母细胞 肌酸（肌氨酸、肌肉素、甲胍基醋酸）摄取法（摄入法） 肌酸转运（运输、运载）蛋白;肌酸转运蛋白（转运因子、传送蛋白）;CTP

Example Units

UnitSource
pmol/(24.h)/mg{protein}Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79411-5