This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
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.
Subcellular Location:
Membrane.
DISEASE:
Hereditary hypophosphatemic rickets with hypercalciuria.
Similarity:
Belongs to the SLC34A transporter family.
SWISS:
Q8N130
Gene ID:
142681
Database links:
Entrez Gene: 14536 Human
Entrez Gene: 142681 Mouse
Entrez Gene: 246234 Rat
Omim: 609826 Human
SwissProt: Q8N130 Human
SwissProt: Q80SU6 Mouse
SwissProt: Q8K4R8 Rat
Unigene: 432442 Human
Unigene: 346652 Mouse
Unigene: 490356 Mouse
Unigene: 15318 Rat
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