how does each snp affect the targeting and processing of the insulin precursor protein
Answers
Insulin is synthesized as preproinsulin and is then processed to proinsulin. It is produced in the β-cells of the pancreas. At the cellular level, the precursor protein of insulin is processed in the lumen of the endoplasmic reticulum of the cells in order to produce the mature and functional insulin protein. Till then it is stored in the secretory granules.
Many mutations have been observed in the insulin protein and its precursor protein, which could decrease the affinity of the proteins towards the insulin receptor and thus, display hyperinsulinemia and glucose intolerance.
Based on the type and region of the mutation, an SNP (Single nucleotide polymorphism) may have a profound effect on the function and structure of the mature insulin protein.
The following picture gives the details of the nucleotides and mutations in the insulin protein.
