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 21 - 30 of 72 in total
DO ID Disease Name Source
DOID:0111040 glycogen storage disease IXd
DOID:0111041 glycogen storage disease IXb
DOID:0111042 glycogen storage disease IXa
DOID:0111043 glycogen storage disease IXc
DOID:0112136 severe congenital neutropenia 4
DOID:10003 sensorineural hearing loss
DOID:1059 intellectual disability
DOID:10787 premature menopause
DOID:10907 microcephaly
DOID:11111 hydronephrosis
The Human Phenotype Ontology
Displaying entries 11 - 20 of 50 in total
HPO ID HPO Term
HP:0000388 Otitis media
HP:0000407 Sensorineural hearing impairment
HP:0000431 Wide nasal bridge
HP:0000768 Pectus carinatum
HP:0000778 Hypoplasia of the thymus
HP:0000954 Single transverse palmar crease
HP:0001015 Prominent superficial veins
HP:0001263 Global developmental delay
HP:0001433 Hepatosplenomegaly
HP:0001508 Failure to thrive
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