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G6PC - glucose-6-phosphatase catalytic subunit
- Synonym(s) : G6PC1, glycogen storage disease type I, von Gierke disease, GSD1a
- Previous symbols and names : G6PT, glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)
- Type : gene with protein product
- Chromosomal location : 17q21.31
- OMIM: 613742
- HGNC: 4056
- UniProtKB: P35575
- Genatlas: G6PC
- Ensembl: ENSG00000131482
- IUPHAR-DB: -
- Reactome: P35575
- LOVD: G6PC
Diseases list
- Disease-causing germline mutation(s) in Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
ORPHA:79258 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
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