功能： disease:Defects in SLC34A3 are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]. HHRH is an autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.,function:May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.,miscellaneous:A 2:1 stoichiometry to Na(+)/Pi is observed at pH 7.4.,similarity:Belongs to the SLC34A transporter family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Membrane; Multi-pass membrane protein.
组织表达： Kidney,
科研货号： PLA007200
NPT2C Polyclonal Antibody
Catalog NoPLA007200
Product information
基因名称： SLC34A3 NPT2C NPTIIC
蛋白名称： Sodium-dependent phosphate transport protein 2C (Sodium-phosphate transport protein 2C) (Na(+)-dependent phosphate cotransporter 2C) (Sodium/inorganic phosphate cotransporter IIC) (Sodium/phosphate cotransporter 2C) (Na(+)/Pi cotransporter 2C) (NaPi-2c) (Solute carrier family 34 member 3)
功能： disease:Defects in SLC34A3 are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]. HHRH is an autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.,function:May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.,miscellaneous:A 2:1 stoichiometry to Na(+)/Pi is observed at pH 7.4.,similarity:Belongs to the SLC34A transporter family.,
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