G6PC3
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_138387.2 Gene Symbol G6PC3
Protein Name glucose 6 phosphatase, catalytic, 3
Alternate Names SCN4, UGRP
Gene Locus 17q21.31

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
- 13556 611045 92579 92579 -
24861 ENSG00000141349 Q9BUM1 G6PC3

Disease name Characteristic / Associated features Category inheritance type
Severe Congenital Neutropenia Increased susceptibility to bacterial infections; Few mature neutrophils in the bone marrow; increased risk of leukemia; Neutropenia; Sepsis, neonatal; intermittent thrombocytopenia; Venous angiectasia; Prominent superficial venous pattern; Cryptorchidism; Splenomegaly; Hepatomegaly; Atrial septal defect; Mitral regurgitation; Pulmonic stenosis; Cor triatriatum; Patent ductus arteriosus; Growth retardation; Structural heart defects; Genitourinary tract anomalies Congenital defects of Phagocyte number, function or both Autosomal recessive