[HTML][HTML] Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia

J Silvent, B Gasse, E Mornet, JY Sire - Journal of Biological Chemistry, 2014 - ASBMB
ALPL encodes the tissue nonspecific alkaline phosphatase (TNSALP), which removes
phosphate groups from various substrates. Its function is essential for bone and tooth
mineralization. In humans, ALPL mutations lead to hypophosphatasia, a genetic disorder
characterized by defective bone and/or tooth mineralization. To date, 275 ALPL mutations
have been reported to cause hypophosphatasia, of which 204 were simple missense
mutations. Molecular evolutionary analysis has proved to be an efficient method to highlight …