Version 2.78

Description

The PPT1 gene (palmitoyl-protein thioesterase 1) [HGNC Gene ID:9325] is located on chromosome 1p32. The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008] [NCBI Gene ID:5538] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
PPT1 gene
Part Display Name
PPT1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-10-23
Construct for LOINC Short Name
PPT1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP32668-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP32668-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PPT1 基因
Synonyms: CLN1;INCL;PPT;婴儿型神经元蜡样质脂褐素沉积病;婴儿型神经元蜡样质脂褐质沉积病;棕榈酰蛋白硫酯酶基因;蜡样质脂褐素沉积病, 神经元-1, 婴儿型;蜡样质脂褐质沉积病, 神经元-1, 婴儿型
et-EE Estonian (Estonia) PPT1 geen
es-ES Spanish (Spain) Gen PPT1
it-IT Italian (Italy) PPT1, gene
Synonyms: Gene PPT1
tr-TR Turkish (Turkey) PPT1 geni
ru-RU Russian (Russian Federation) PPT1 ген
nl-NL Dutch (Netherlands) PPT1-gen
Synonyms: PPT1 gen