G6PC3

G6PC3
Identifiers
Aliases G6PC3, SCN4, UGRP, glucose 6 phosphatase catalytic subunit 3, glucose-6-phosphatase catalytic subunit 3
External IDs MGI: 1915651 HomoloGene: 16304 GeneCards: G6PC3
Orthologs
Species Human Mouse
Entrez

92579

68401

Ensembl

ENSG00000141349

ENSMUSG00000034793

UniProt

Q9BUM1

Q6NSQ9

RefSeq (mRNA)

NM_138387
NM_001319945

NM_175935

RefSeq (protein)

NP_612396.1

NP_787949.2

Location (UCSC) Chr 17: 44.07 – 44.08 Mb Chr 11: 102.19 – 102.19 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.[3][4][5]

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.[3]

Clinical significance

Mutations in this gene result in autosomal recessive severe congenital neutropenia.[3]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 3 "Entrez Gene: glucose 6 phosphatase".
  4. 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.
  5. 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


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