The SLC52A1 antibody is a tool used to study the solute carrier family 52 member 1 (SLC52A1), a gene encoding riboflavin transporter RFVT1. This transporter is critical for cellular uptake of riboflavin (vitamin B2), a precursor for flavin coenzymes (FAD and FMN) essential in redox reactions and energy metabolism. SLC52A1 is primarily expressed in the intestine, placenta, and kidneys, facilitating dietary riboflavin absorption and systemic distribution. Mutations in SLC52A1 are linked to Brown-Vialetto-Van Laere syndrome (BVVLS), a rare autosomal recessive disorder characterized by neurodegeneration, sensorineural hearing loss, and respiratory insufficiency due to impaired riboflavin transport.
SLC52A1 antibodies enable researchers to detect RFVT1 protein expression, localization, and abundance in tissues or cell lines. They are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to investigate RFVT1's role in health and disease. Such studies help elucidate mechanisms of riboflavin deficiency disorders and validate therapeutic strategies, including high-dose riboflavin supplementation. Additionally, these antibodies aid in exploring SLC52A1 regulation under physiological or pathological conditions, such as inflammation or metabolic stress. By identifying RFVT1 dysfunction, researchers can better understand its contribution to BVVLS and other conditions linked to flavoprotein deficiencies, offering insights into personalized treatment approaches.