93703-7

LOINC 2.82

Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast

PPT1 + TPP1 Pnl Fib

Definition

  • This panel is used to help differentiate between forms of neuronal ceroid lipufuscinoses (CLNs), which are progressive, neurodegenerative lysosomal storage diseases. CLN1 and CLN2 are caused by mutations in the PPT1 gene, which encodes palmitoyl protein thioesterase 1, and TPP1, which encodes tripeptidyl peptidase 1, respectively. Both are associated with seizures, dementia, and vision loss. [UniProt: O14773][UniProt: P50897]

Component

  • Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel

Specimen / system

  • Fibroblasts

Class

  • PANEL.CHEM

Property

  • -

Scale

  • -

Related names

  • Chemistry; Fib; Fibr; i; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; PPT; PPT1 + TPP1 Pnl; PR; Prot; Random

Index terms

  • Chemistry
  • Fib
  • Fibr
  • i
  • Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pnl
  • Point in time
  • PPT
  • PPT1 + TPP1 Pnl
  • PR
  • Prot
  • Random