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Protein Domain : Sodium-dependent phosphate transport protein 2C

Primary Identifier  IPR029850 Type  Family
Short Name  Na/Pi_transpt_2C
description  The sodium-phosphate cotransporter type 2C (NPT2C, also known as SLC34A3) is found in the renal brush border membrane and is involved in maintaining phosphate homeostasis []. It could function as a Na/P cotransporter in weaning animals, but its role is reduced in adults [], where type 2A is the main transporter []. Mutations in the SLC34A3 gene cause a disease called hereditary hypophosphatemic rickets with hypercalcuria (HHRH), which is characterised by reduced renal phosphate reabsorption, hypophosphatemia, and rickets []. However, no major phenotype could be detected in SLC34A3 knock-out mice [].

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1 Parent Features

2 Protein Domain Regions