SLC6A8抗体

The SLC6A8 antibody targets the solute carrier family 6 member 8 (SLC6A8) protein, a sodium- and chloride-dependent creatine transporter critical for cellular energy metabolism. SLC6A8 is primarily expressed in tissues with high energy demands, such as the brain, skeletal muscle, and kidneys, where it facilitates creatine uptake into cells. Creatine, essential for ATP regeneration, is particularly vital in neural and muscular function. Mutations in the SLC6A8 gene cause X-linked creatine transporter deficiency (CTD), a disorder characterized by intellectual disability, speech delays, seizures, and behavioral abnormalities. Diagnosis and research of CTD rely heavily on SLC6A8 antibodies to detect protein expression levels via techniques like Western blotting, immunohistochemistry, or immunofluorescence. These antibodies also aid in studying SLC6A8's role in cancer, as some tumors overexpress the transporter to meet heightened metabolic demands. Commercially available SLC6A8 antibodies are typically raised in rabbits or mice, targeting specific epitopes (e.g., C-terminal regions). Validation includes testing on knockout models or tissues with known SLC6A8 expression. Beyond diagnostics, these tools are pivotal for exploring therapeutic strategies, such as creatine supplementation or gene therapy, to restore cellular creatine homeostasis in affected individuals.