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 8.0.0) Enables sodium:phosphate symporter activity. Acts upstream of or within phosphate ion 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] |