A structurally abnormal insulin causing human diabetes.
Insulin isolated from the pancreas of a diabetic patient with fasting hyperinsulinaemia showed decreased activity in binding to cell membrane insulin receptors and in stimulating cellular 2-deoxyglucose transport and glucose oxidation. Chemical studies suggest that the isolated hormone is a mixture of normal insulin and an abnormal variant which contains a leucine for phenylalanine substitution at position 24 or 25 of the insulin B-chain.
D000595:Amino Acid Sequence; D003920:Diabetes Mellitus / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007328:Insulin / Q000032:analysis / Q000235:genetics* / Q000378:metabolism; D007333:Insulin Resistance; D007515:Islets of Langerhans / Q000032:analysis; D009154:Mutation; D011972:Receptor, Insulin / Q000378:metabolism; D013329:Structure-Activity Relationship
D007328:Insulin; D011972:Receptor, Insulin