G6PC3

Glucose 6 phosphatase, catalytic, 3
Identifiers
Symbols	G6PC3 ; SCN4; UGRP
External IDs	OMIM: 611045 MGI: 1915651 HomoloGene: 16304 GeneCards: G6PC3 Gene
EC number	3.1.3.9
Gene ontology Molecular function • glucose-6-phosphatase activity Cellular component • endoplasmic reticulum membrane • membrane • integral component of endoplasmic reticulum membrane Biological process • carbohydrate metabolic process • gluconeogenesis • protein dephosphorylation • hexose transport • glucose transport • glucose-6-phosphate transport • small molecule metabolic process • glucose 6-phosphate metabolic process • transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	92579	68401
Ensembl	ENSG00000141349	ENSMUSG00000034793
UniProt	Q9BUM1	Q6NSQ9
RefSeq (mRNA)	NM_138387	NM_175935
RefSeq (protein)	NP_612396	NP_787949
Location (UCSC)	Chr 17: 44.07 – 44.08 Mb	Chr 11: 102.19 – 102.19 Mb
PubMed search

Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.^[1][2][3]

Function

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.^[1]

Clinical significance

Mutations in this gene result in autosomal recessive severe congenital neutropenia.^[1]

References

1. "Entrez Gene: glucose 6 phosphatase".
2. Martin CC, Oeser JK, Svitek CA, Hunter SI, Hutton JC, O'Brien RM (October 2002). "Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein". J. Mol. Endocrinol. 29 (2): 205–22. doi:10.1677/jme.0.0290205. PMID 12370122.
3. Guionie O, Clottes E, Stafford K, Burchell A (September 2003). "Identification and characterisation of a new human glucose-6-phosphatase isoform". FEBS Lett. 551 (1–3): 159–64. doi:10.1016/S0014-5793(03)00903-7. PMID 12965222.

Further reading

• Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Germeshausen M, Zeidler C, Stuhrmann M; et al. (2010). "Digenic mutations in severe congenital neutropenia". Haematologica 95 (7): 1207–10. doi:10.3324/haematol.2009.017665. PMC 2895047. PMID 20220065.
• Dupré N, Chrestian N, Bouchard JP; et al. (2009). "Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians". Neuromuscul. Disord. 19 (5): 330–4. doi:10.1016/j.nmd.2008.01.007. PMID 18337100.
• Boztug K, Appaswamy G, Ashikov A; et al. (2009). "A syndrome with congenital neutropenia and mutations in G6PC3". N. Engl. J. Med. 360 (1): 32–43. doi:10.1056/NEJMoa0805051. PMC 2778311. PMID 19118303.