Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. Forms with glucose-6- phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels. Defects in SLC37A4 are the cause of glycogen storage disease type 1B (GSD1B). GSD1B is a metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. GSD1 patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. GSD1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. Defects in SLC37A4 are the cause of glycogen storage disease type 1C (GSD1C). Defects in SLC37A4 are the cause of glycogen storage disease type 1D (GSD1D). Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family