Article
Substitution of glutamic acid for alanine 1135 in the putative "catalytic loop" of the tyrosine kinase domain of the human insulin receptor. A mutation that impairs proteolytic processing into subunits and inhibits receptor tyrosine kinase activity.
The Journal of biological chemistry - 15 Apr 1993
Cama A, de la Luz Sierra M, Quon M J, Ottini L, Gorden P, Taylor S I
Abstract excerpt
The intracellular domain of the insulin receptor possesses activity as a tyrosine-specific protein kinase which is stimulated by insulin binding to the extracellular domain of the receptor. We have identified a patient with a genetic form of insulin resistance who is heterozygous for a mutation substituting Glu for Ala1135 in the putative "catalytic loop" of the tyrosine kinase domain of the receptor. In this...
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