LP36781-0
GNE gene
Active
Description
The GNE gene (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) [HGNC Gene ID:23657] is located on chromosome 9p13.3. The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:10020] 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
- GNE gene
- Part Display Name
- GNE gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-23
- Construct for LOINC Short Name
- GNE 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) | GE 基因 Synonyms: DMRV; |
| et-EE | Estonian (Estonia) | GNE geen |
| es-ES | Spanish (Spain) | Gen GNE |
| it-IT | Italian (Italy) | GNE, gene Synonyms: Gene GNE |
| tr-TR | Turkish (Turkey) | GNE geni |
| ru-RU | Russian (Russian Federation) | GNE ген |
| nl-NL | Dutch (Netherlands) | GNE-gen Synonyms: GNE gen |
| fr-FR | French (France) | GNE gène |
| pl-PL | Polish (Poland) | GNE gen Synonyms: Gen GNE |
| el-GR | Greek (Greece) | Γονίδιο GNE Synonyms: Γονίδιο GNE |
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://