SLC34A1 gene

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]

From UniProt:

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

From UniProt:

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]

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3

Molecular Location: base pairs 177,384,431 to 177,412,021 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3
  • FRTS2
  • HCINF2
  • NAPI-3
  • NPT2
  • NPTIIa
  • SLC11
  • SLC17A2