Entrez gene ID | | 92579 |
Official gene symbol | | G6PC3 |
Full name | | glucose 6 phosphatase, catalytic, 3 |
Aliases | | ,SCN4,UGRP, |
Gene summary | | This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein. |
Location | | Chromosome: 17 Locus: 17q21.31 |
Gene position | | 42148098 - 42153712 Map Viewer |
Gene orientation | | plus |
Gene size | | 5615 bp |
Gene sequence |
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OMIM ID | | 611045 |
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