Human Red-Cell Acid Phosphatase (ACP1): A New Mutant (ACP1*KUK) Detected by Isoelectric Focusing, Kinetics of Thermostability and Substrate Activity

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Abstract
A new rare mutant of the red-cell acid phosphatase (ACP1) is described using conventional gel electrophoresis and isoelectric focusing migration. According to the electrophoretic patterns obtained, the new mutant ACP1*KUK is different from the ACP* H and ACP1* A'' variants already described. The enzyme activities and the thermostability curves definitively confirm the existence of a new variant. The transmission of this mutant was followed through a pedigree of three generations. The family originated from Czechoslovakia. The frequency of the variant is probably less than 0.001.