LP32668-3
PPT1 gene
Active
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
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PPT1 基因 Synonyms: CLN1; |
| 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 |
| fr-FR | French (France) | PPT1 gène |
| pl-PL | Polish (Poland) | PPT1 gen Synonyms: Gen PPT1 |
| el-GR | Greek (Greece) | Γονίδιο PPT1 Synonyms: Γονίδιο PPT1 |
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://