34587-6

Palmitoyl protein thioesterase [Enzymatic activity/volume] in Serum or Plasma

Active

Part Description

LP32455-5 Palmitoyl protein thioesterase
Palmitoyl protein thioesterases are enzymes (EC 3.1.2.22) that remove thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation.

Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain. Direct sequencing of cDNAs derived from brain RNA of INCL patients has shown a mis-sense transversion of A to T at nucleotide position 364, which results in substitution of Trp for Arg at position 122 in the protein - Arg 122 is immediately adjacent to a lipase consensus sequence that contains the putative active site Ser of PPT. The occurrence of this and two other independent mutations in the PPT gene strongly suggests that defects in this gene cause INCL. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

LOINC Names Get Info

Fully-Specified Name: Palmitoyl protein thioesterase:CCnc:Pt:Ser/Plas:Qn:
Long Common Name: Palmitoyl protein thioesterase [Enzymatic activity/volume] in Serum or Plasma
Short Name: PPT SerPl-cCnc
Display Name: Palmitoyl protein thioesterase [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Palmitoyl protein thioesterase, Blood

Part Model Get Info

Component
Palmitoyl protein thioesterase
LP32455-5
- Analyte
  Palmitoyl protein thioesterase
  LP32455-5
  - Component Numerator
    Palmitoyl protein thioesterase
    LP32455-5
    - Component Numerator Core
      Palmitoyl protein thioesterase
      LP32455-5
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
CCnc
LP6789-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Ser/Plas
LP7576-4
- System Core
  Ser/Plas
  LP7576-4
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.10
Last Updated: Version 2.68 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Palmitoyl-protein-thioesteráza:Katalytická koncentrace:Časový bod:Sérum/plazma:Kvantitativní:
de-DE	German (Germany)	Palmitoylproteinthioesterase:Katalytische Konzentration:Zeitpunkt:Serum oder Plasma:Quantitativ:
el-GR	Greek (Greece)	Θειοεστεράση πρωτεϊνών παλμιτοϋλίου:CCnc:Pt:Ορός/Πλάσμα:Qn: Synonyms: CCnc CHEM Pt Qn Θειοεστεράση πρωτεϊνών παλμιτοϋλίου Ορός Ορός/Πλάσμα Πλάσμα Πρωτεΐνη
es-AR	Spanish (Argentina)	proteína palmitoil transferasa:concentración catalítica:punto en el tiempo:suero/plasma:cuantitativo:
es-ES	Spanish (Spain)	Palmitoil-protein-tioesterasa:Concentración Catalítica:Punto temporal:Suero o Plasma:Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Palmitoil proteína tioesterasa:Concentración catalítica:Punto temporal:Suero o Plasma:Cuantitativo:
fr-CA	French (Canada)	Palmitoyl-protéine thioestérase:Concentration catalytique:Temps ponctuel:Sérum/Plasma:Quantitatif:
fr-FR	French (France)	Palmitoyl protéine thioestérase:Catalytique/Volume:Ponctuel:Sérum/Plasma:Numérique:
fr-BE	French (Belgium)	Palmitoyl-protéine thioestérase:Concentration catalytique:Temps ponctuel:Sérum/Plasma:Quantitatif:
it-IT	Italian (Italy)	Palmitoil proteina tioesterasi:CCnC:Pt:Siero/Plasma:Qn: Synonyms: Chimica Concentrazione Catalitica Plasma Punto nel tempo (episodio) Siero Siero o Plasma
ko-KR	Korean (Korea, Republic Of)	Palmitoyl protein thioesterase:촉매농도:검사시점:혈청/혈장:정량:
nl-NL	Dutch (Netherlands)	palmitoylproteïnthioesterase:enzymatische activiteit/volume:moment:serum of plasma:kwantitatief:
pl-PL	Polish (Poland)	Tioesteraza białka palmitoilowego:stężenie katalityczne:punkt w czasie:surowica lub osocze:ilościowy: Synonyms: Tioesteraza białka palmitylowego
pt-BR	Portuguese (Brazil)	Palmitoil proteína tioesterase:CCnc:Pt:Sor/Plas:Qn: Synonyms: ; Prot; PR; PPT; Catalytic Concentration; Point in time; Random; SerPl; SerPlas; SerP; Serum; SR; Plasma; Pl; Plsm; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Пальмитоил протеин тиоэстераза:КаталКонц:ТчкВрм:Сыв/Плаз:Колич: Synonyms: Белок Каталитическая концентрация Количественный Плазма Сыворотка Сыворотка или Плазма Точка во времени;Момент
tr-TR	Turkish (Turkey)	Palmitoil protein tiyoesteraz:KtlKons:Zmlı:Ser/Plaz:Kant:
zh-CN	Chinese (China)	棕榈酰蛋白硫酯酶:催化浓度:时间点:血清/血浆:定量型: Synonyms: PPT;棕榈基硫酯酶;软酯酰蛋白硫酯酶 PR;Prot;成分 - 化学 - 蛋白质类;蛋白;朊;蛋白质类;蛋白质类物质催化浓度(单位体积);单位体积内酶的单位数化学;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;瞬间血清或血浆

Example Units

Unit	Source
U/L	Example UCUM Units

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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://loinc.org/license for the full LOINC copyright and license.