Article
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
Molecular genetics and metabolism - 1 Jul 2013
Sultana Sara, Al-Shawafi Hiba A, Makita Saori, Sohda Miwa, Amizuka Norio, Takagi Ritsuo, Oda Kimimitsu
Abstract excerpt
Various loss-of function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene cause a rare genetic disorder called hypophosphatasia (HPP), which is characterized by defective mineralization in the bones and teeth and a deficiency in serum alkaline phosphatase. A point mutation (c.1250A>G), which leads to replacement of an asparagine at position 417 of TNSALP with serine [TNSALP (N417S)], has...
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