79411-5

LOINC 2.82

Creatine transport protein [Enzymatic activity/mass] in Fibroblast by Creatine uptake assay

CrT protein Fib Creat uptake-cCnt

Definition

  • 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.

Component

  • Creatine transport protein

Specimen / system

  • Fibroblasts

Class

  • CHEM

Property

  • CCnt

Scale

  • Qn

Method

  • Creatine uptake

Related names

  • Catalytic Content; Chemistry; Creat uptake; CrT protein; Fib; Fibr; Point in time; PR; Prot; QNT; Quan; Quant; Quantitative; Random

Index terms

  • Catalytic Content
  • Chemistry
  • Creat uptake
  • CrT protein
  • Fib
  • Fibr
  • Point in time
  • PR
  • Prot
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random