Gene Symbol | SLC34A1 |
Entrez Gene ID | 6569 |
Full Name | solute carrier family 34 member 1 |
Synonyms | FRTS2,HCINF2,NAPI-3,NPHLOP1,NPT2,NPTIIa,SLC11,SLC17A2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3); ?Fanconi renotubular syndrome 2, 613388 (3); Hypercalcemia, infantile, 2, 616963 (3) |