title: Human red-cell acid phosphatase (ACP1): a new mutant (ACP1*KUK) detected by isoelectric focusing, kinetics of thermostability and substrate activity.
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.
authors.affiliation: Center for Human Population Genetics CNRS, CHU Purpan, Toulouse, France.
authors.forename: J
authors.initials: J
authors.lastname: Arnaud
authors.forename: B
authors.initials: B
authors.lastname: Vavrusa
authors.forename: J
authors.initials: J
authors.lastname: Sevin
authors.forename: J
authors.initials: J
authors.lastname: Constans
mesh_terms: D000135:Acid Phosphatase / Q000097:blood* / Q000235:genetics*; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D014644:Genetic Variation; D006358:Hot Temperature; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D010375:Pedigree
chemical_list: C062719:ACP1-KUK; D000135:Acid Phosphatase