Primary Identifier | MGI:1345284 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 20505 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sodium:phosphate symporter activity. Involved in several processes, including inorganic diphosphate transport; phosphate ion homeostasis; and response to sodium phosphate. Acts upstream of or within bone remodeling. Located in apical plasma membrane; basolateral plasma membrane; and vesicle. Is expressed in genitourinary system; ileum; skeleton; and tooth. Used to study hereditary hypophosphatemic rickets with hypercalciuria. Human ortholog(s) of this gene implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. Orthologous to human SLC34A1 (solute carrier family 34 member 1). PHENOTYPE: Homozygous null mice exhibit renal phosphate wasting, hyerpcalciuria, and skeletal abnormalities. Postnatal viability is reduced, putatively due to poor nutritional status. [provided by MGI curators] |