Primary Identifier | MGI:1927555 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 54403 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sodium:bicarbonate symporter activity. Acts upstream of or within bicarbonate transport; establishment of localization in cell; and sodium ion transport. Located in basolateral plasma membrane. Is expressed in several structures, including brain; metanephros; spinal cord floor plate; and thyroid primordium. Used to study renal tubular acidosis. Human ortholog(s) of this gene implicated in renal tubular acidosis. Orthologous to human SLC4A4 (solute carrier family 4 member 4). PHENOTYPE: Nullizygous mice show postnatal growth retardation and lethality, bowel obstructions, metabolic acidosis and abnormal urine homeostasis. Additional phenotypes include altered blood, ion and ammonia homeostasis, renal tubular acidosis/atrophy, corneal opacities, and bone, muscle and spleen defects. [provided by MGI curators] |