LP71166-0
GCK gene
Active
Description
The GCK gene (glucokinase (hexokinase 4)) [HGNC Gene ID:4195] is located on chromosome 7p15.3-p15.1. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009] [NCBI Gene ID:2645] 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
- GCK gene
- Part Display Name
- GCK gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-09-19
- Construct for LOINC Short Name
- GCK gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GCK 基因 Synonyms: GK; |
| et-EE | Estonian (Estonia) | GCK geen |
| es-ES | Spanish (Spain) | Gen GCK |
| it-IT | Italian (Italy) | GCK, gene Synonyms: Gene GCK |
| tr-TR | Turkish (Turkey) | GCK geni |
| ru-RU | Russian (Russian Federation) | GCK ген |
| nl-NL | Dutch (Netherlands) | GCK-gen Synonyms: GCK gen |
| fr-FR | French (France) | GCK gène |
| pl-PL | Polish (Poland) | GCK gen Synonyms: Gen GCK |
| el-GR | Greek (Greece) | Γονίδιο GCK Synonyms: Γονίδιο GCK |
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://