Glycogen storage disease Ib

Gene Information

Names

HUGO name: G6PC

Alias(es):

  • G6PT
  • GSD1a
  • SLC37A4
  • glucose-6-phosphatase, catalytic

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

May be a single membrane channel protein acting both as a hydrolase and a translocase. It is the key enzyme in homeostatic regulation of blood glucose levels.

Catalytic activity:

D-glucose 6-phosphate + h(2)o = d-glucose + phosphate

Subcellular location:

Integral membrane protein. Endoplasmic reticulum.

Pathway:

Gluconeogenesis and glycogenolysis; last step.

Expression

Expression pattern for human

Tissue Expression (%) Clones
muscle, striated 24.40 1:3462
hepatocellular carcinoma 23.63 4:14298
liver 22.99 10:36737
lung metatastic chondrosarcoma 13.08 1:6458
corresponding non cancerous liver tissue 6.05 1:13955
kidney 5.74 8:117781
pool, liver+spleen 4.12 3:61534