LP64869-8
G6PC gene
Active
Description
The G6PC gene (glucose-6-phosphatase, catalytic subunit) [HGNC Gene ID:4056] is located on chromosome 17q21. Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011] [NCBI Gene ID:2538] 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
- G6PC gene
- Part Display Name
- G6PC gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-08-17
- Construct for LOINC Short Name
- G6PC gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | G6PC 基因 Synonyms: G6Pase; |
| et-EE | Estonian (Estonia) | G6PC geen |
| es-ES | Spanish (Spain) | Gen G6PC |
| it-IT | Italian (Italy) | G6PC, gene Synonyms: Gene G6PC |
| tr-TR | Turkish (Turkey) | G6PC geni |
| ru-RU | Russian (Russian Federation) | G6PC ген |
| nl-NL | Dutch (Netherlands) | G6PC-gen Synonyms: G6PC gen |
| fr-FR | French (France) | G6PC gène |
| pl-PL | Polish (Poland) | G6PC gen Synonyms: Gen G6PC; |
| el-GR | Greek (Greece) | Γονίδιο G6PC Synonyms: Γονίδιο G6PC |
LOINC Copyright
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