Primary Identifier | MGI:2159410 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 142681 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables sodium:phosphate symporter activity. Acts upstream of or within phosphate ion transport and sodium ion transmembrane transport. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including extraembryonic component; genitourinary system; and small intestine. Human ortholog(s) of this gene implicated in hereditary hypophosphatemic rickets with hypercalciuria. Orthologous to human SLC34A3 (solute carrier family 34 member 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification, rickets, or osteomalacia. [provided by MGI curators] |