Association of ABCC1 Exon 21 Genetic Variants with Type 2 Diabetes Mellitus in the Population of District Mardan, Pakistan

Abstract

A large class of transporter proteins is called ATP Binding Cassette transporters, or ABC transporters. These proteins transport a wide variety of substrates, metabolites, and xenobiotics by bridging external and intracellular membranes. There are now 49 known ABC transporters in humans. Based on their protein domains and amino acid sequences, ABC transporters are categorized into seven distinct families, numbered A through G. When these transporters are overexpressed, a variety of drugs are exported, which makes treating conditions like cancer, diabetes, and AIDS more difficult. There are twelve full-length transporters in the ABCC transporter family, the first of which is ABCC1. ABCC1 is also known as multidrug resistance protein 1 (MRP1). This transporter has 31 exons and 1531 amino acids, making it a 190 KDa protein. ABCC1 has a role in the cellular efflux of several medications. Insulin production is impacted by mutations in the ABCC1 gene, which is causally associated with Type 2 diabetes and other genetic disorders. The current study looked for mutations in ABCC1 gene Exon 21 in the diabetic population of District Mardan, Pakistan. Patients with diabetes had their genomic DNA taken. Next, using the appropriate PCR primers, exon 21 of the ABCC1 gene was amplified. Single-strand conformation polymorphism analysis was used to identify several genetic variants.