The SLC37A4 gene encodes a glucose-6-phosphate transporter (G6PT) located in the endoplasmic reticulum membrane, critical for maintaining glucose homeostasis. This protein facilitates the transport of glucose-6-phosphate from the cytoplasm into the ER lumen, where it interacts with glucose-6-phosphatase to hydrolyze glucose-6-phosphate into glucose and phosphate—a key step in gluconeogenesis and glycogenolysis. Mutations in SLC37A4 are linked to glycogen storage disease type Ib (GSD-Ib), an autosomal recessive disorder characterized by impaired glucose production, hypoglycemia, hepatomegaly, and immune dysfunction.
SLC37A4 antibodies are immunological tools designed to detect and quantify the expression of this transporter in research or diagnostic settings. These antibodies are commonly used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to study protein localization, expression levels, or functional abnormalities in cellular or tissue samples. They play a vital role in investigating the molecular mechanisms underlying GSD-Ib, validating disease models, and assessing therapeutic interventions.
Commercially available SLC37A4 antibodies are typically raised in hosts like rabbits or mice, targeting specific epitopes of the human protein. Validation includes testing for specificity, sensitivity, and cross-reactivity across species. Their application extends to both basic research—exploring metabolic regulation in the liver and kidneys—and clinical diagnostics, aiding in the confirmation of GSD-Ib cases through protein expression analysis. Ongoing research continues to refine their utility in understanding SLC37A4's broader roles in metabolism and disease.