Version 2.78

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

Fully-Specified Name

Component
Palmitoyl protein thioesterase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
PPT DBS-cCnc
Display Name
Palmitoyl protein thioesterase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Palmitoyl protein thioesterase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
101348-1 Palmitoyl protein thioesterase and Tripeptidyl peptidase I panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Palmitoil-protein-tioesterasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Palmitoil proteína tioesterasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
fr-CA French (Canada) Palmitoyl-protéine thioestérase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Palmitoyl protéine thioestérase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Palmitoyl-protéine thioestérase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Palmitoil proteina tioesterasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) palmitoylproteïnthioesterase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Palmitoil Proteína Tioesterase::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Пальмитоил протеин тиоэстераза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Белок Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Palmitoil protein tiyoesteraz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 棕榈酰蛋白硫酯酶:催化浓度:时间点:全血.斑点: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 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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;血液

Example Units

Unit Source
pmol/h/mL 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=59246-9