Amino acid transport: evidence for genetic control of two types in human kidney
CR Scriver, OH Wilson - Science, 1967 - science.org
CR Scriver, OH Wilson
Science, 1967•science.orgA mutation affecting renal transport of proline, hydroxyproline, and glycine occurs in man. In
the presumed homozygote there is still significant residual transport of these compounds;
however, this remaining function is saturated at normal concentrations of substrate in the
plasma and is not inhibited by L-proline in the expected way. The presumed heterozygote
has partial loss of a transport system common to the three substrates, which becomes
saturated at high concentrations of substrate and is inhibited by L-proline. Two different …
the presumed homozygote there is still significant residual transport of these compounds;
however, this remaining function is saturated at normal concentrations of substrate in the
plasma and is not inhibited by L-proline in the expected way. The presumed heterozygote
has partial loss of a transport system common to the three substrates, which becomes
saturated at high concentrations of substrate and is inhibited by L-proline. Two different …
A mutation affecting renal transport of proline, hydroxyproline, and glycine occurs in man. In the presumed homozygote there is still significant residual transport of these compounds; however, this remaining function is saturated at normal concentrations of substrate in the plasma and is not inhibited by L-proline in the expected way. The presumed heterozygote has partial loss of a transport system common to the three substrates, which becomes saturated at high concentrations of substrate and is inhibited by L-proline. Two different types of transport systems are proposed: a common system and systems with lower capacity and greater specificity. The two types of transport appear to be controlled by separate genes.
AAAS