Article

Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport causing congenital hypophosphatemia

2023-03-07

Abstract excerpt

The Na + -dependent phosphate cotransporter-2A (NPT2A, SLC34A1) is a primary regulator of extracellular phosphate homeostasis. Its most prominent structural element is a carboxy-terminal PDZ ligand that binds Na + /H + Exchanger Regulatory Factor-1 (NHERF1, SLC9A3R1). NHERF1, a multidomain PDZ protein,establishes NPT2A membrane localization and is required for hormone-sensitive phosphate transport. NPT2A also p...

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Literature Corpus work: 40f8af6a-ab6c-5e99-9e63-9f07f4f08bd2
DOI: 10.1101/2023.03.06.531332

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