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G6PC

G6PC

Protein-coding gene in the species Homo sapiens

(glucose 6-phosphatase alpha) is an enzyme that in humans is encoded by the G6PC gene. Glucose-6-phosphatase is an integral membrane protein of the endoplasmic

G6PC

Glucose 6-phosphatase

Enzyme

three isozymes of the catalytic subunit: glucose 6-phosphatase-α, encoded by G6PC; IGRP, encoded by G6PC2; and glucose 6-phosphatase-β, encoded by G6PC3. Glucose

Glucose 6-phosphatase

Glucose_6-phosphatase

Human genome

Complete set of nucleic acid sequences for humans

Caucasians CYP21A2 Glycogen storage disease type I 1:100000 births in America G6PC Maple syrup urine disease 1:180000 in the U.S. 1:176 in Mennonite/Amish communities

Human genome

Human_genome

Medical genetics of Jews

Autosomal recessive conditions that affect ethnic Jews more frequently

Disease type 1a Endocrinology, hematology, immunology Autosomal recessive G6PC 1/71 Mucolipidosis IV Endocrinology Autosomal recessive MCOLN1 1/110 Niemann–Pick

Medical genetics of Jews

Medical_genetics_of_Jews

Glycogen storage disease

Medical condition

Gierke's disease) Glucose-6-phosphatase / Glucose-6-phosphate translocase (G6PC / SLC37A4 /SLC17A3) 1 in 50,000 – 100,000 Yes Yes Yes None Growth failure

Glycogen storage disease

Glycogen_storage_disease

RAR-related orphan receptor alpha

Protein-coding gene in the species Homo sapiens

been discovered as a RORα and RORγ agonist that increases the expression of G6PC and FGF21, yielding the therapeutic potential to treat obesity and diabetes

RAR-related orphan receptor alpha

RAR-related_orphan_receptor_alpha

Glycogen storage disease type I

Medical condition

A few rarer forms have been described. GSD Ia results from mutations of G6PC, the gene for glucose-6-phosphatase, located on chromosome 17q21. GSD Ib

Glycogen storage disease type I

Glycogen_storage_disease_type_I

Inborn errors of carbohydrate metabolism

Medical condition

adenomas likely. Exercise test: Normal lactate and ammonia rise. NLM/GHR:G6PC OMIM:G6PC NLM/GHR:SLC37A4 OMIM:SLC37A4 NLM/GHR:GSD 1 ORPHA:GSD 1 OMIM:GSD 1a GARD:GSD

Inborn errors of carbohydrate metabolism

Inborn_errors_of_carbohydrate_metabolism

PCK2

Protein-coding gene in the species Homo sapiens

"Fasting hyperglycemia is not associated with increased expression of PEPCK or G6Pc in patients with Type 2 Diabetes". Proceedings of the National Academy of

PCK2