Article
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
American journal of physiology. Cell physiology - 1 May 2012
Haito-Sugino Sakiko, Ito Mikiko, Ohi Akiko, Shiozaki Yuji, Kangawa Natsumi, Nishiyama Takashi, Aranami Fumito, Sasaki Shohei, Mori Ayaka, Kido Shinsuke, Tatsumi Sawako, Segawa Hiroko, Miyamoto Ken-Ichi
Abstract excerpt
Mutations in the apically located Na(+)-dependent phosphate (NaPi) cotransporter, SLC34A3 (NaPi-IIc), are a cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH). We have characterized the impact of several HHRH mutations on the processing and stability of human NaPi-IIc. Mutations S138F, G196R, R468W, R564C, and c.228delC in human NaPi-IIc significantly decreased the levels of NaPi cotransport...
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