solute carrier family 34 member 1
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.
From NCBI Gene:
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1
- Fanconi renotubular syndrome 2
- Hypercalcemia, infantile, 2
Fanconi renotubular syndrome 2 (FRTS2): A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. [MIM:613388]
Hypercalcemia, infantile, 2 (HCINF2): An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. [MIM:616963]
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1): A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. [MIM:612286]