Gene Symbol | SLC34A3 |
Entrez Gene ID | 142680 |
Full Name | solute carrier family 34 member 3 |
Synonyms | HHRH,NPTIIc |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypophosphatemic rickets with hypercalciuria, 241530 (3) |