G6PC3 wt Allele

Preferred Label : G6PC3 wt Allele;

NCIt synonyms : UGRP; SCN4; Glucose-6-Phosphatase, Beta Gene; Glucose-6-Phosphatase, Catalytic, 3 Gene; Glucose-6-Phosphatase Catalytic Subunit 3 wt Allele; Glucose 6 Phosphatase, Catalytic, 3 Gene;

NCIt definition : Human G6PC3 wild-type allele is located in the vicinity of 17q21.31 and is approximately 6 kb in length. This allele, which encodes glucose-6-phosphatase 3 protein, is involved in gluconeogenesis. Mutation of the gene is associated with autosomal dominant severe congenital neutropenia 4 (SCN4).;

NCI Metathesaurus CUI : CL1642360;

GenBank Accession Number : BC021574;

Details

Origin ID

C176507;

UMLS CUI

C5444299;

Automatic exact mappings (from CISMeF team)
- Glucose-6-phosphatase, catalytic, 3 [OMIM gene]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- glucose-6-phosphatase catalytic subunit 3 [ORDO Gene]
- severe congenital neutropenia 4 [DO Concept]
OMIM relation
- Glucose-6-phosphatase, catalytic, 3 [OMIM gene]
See also inter- (CISMeF)
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.31 [NCIt concept]
gene_is_element_in_pathway
- Adipocytokine Signaling Pathway [NCIt concept]
- Galactose Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- Insulin Resistance Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Starch and Sucrose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Gluconeogenic Process [NCIt concept]
- Hydrolysis [NCIt concept]

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