glucose-6-phosphatase catalytic subunit 3

Summary
Gene Symbol
  • G6PC3
Aliases
  • UGRP
Organism
Homo sapiens (human)
External Links
NCBI Gene
92579
HGNC
24861
KEGG Gene ID
hsa:92579
PubChem
92579
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Endoplasmic reticulum
  • Gluconeogenesis
  • Hydrolase
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A8Q3SIG5
Q9BUM1
  • Glucose-6-phosphatase beta
  • Ubiquitous glucose-6-phosphatase catalytic subunit-related protein
K7EJC5
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K01084
Name
glucose-6-phosphatase [EC:3.1.3.9]
References
Disease
Disease Ontology
Displaying entries 61 - 70 of 72 in total
DO ID Disease Name Source
DOID:674 cleft palate
DOID:758 situs inversus
DOID:799 varicose veins
DOID:8577 ulcerative colitis
DOID:8778 Crohn's disease
DOID:8927 learning disability
DOID:9119 acute myeloid leukemia
DOID:9169 Wiskott-Aldrich syndrome
DOID:9266 cystinuria
DOID:9563 bronchiectasis
The Human Phenotype Ontology
Displaying entries 31 - 40 of 50 in total
HPO ID HPO Term
HP:0001903 Anemia
HP:0002092 Pulmonary arterial hypertension
HP:0002093 Respiratory insufficiency
HP:0002205 Recurrent respiratory infections
HP:0002240 Hepatomegaly
HP:0002619 Varicose veins
HP:0002718 Recurrent bacterial infections
HP:0002783 Recurrent lower respiratory tract infections
HP:0002788 Recurrent upper respiratory tract infections
HP:0003198 Myopathy
Displaying 1 entry
Disease ID Disease Name
OMIM:612541
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024