Primary Identifier | MGI:107181 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 13487 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chloride:bicarbonate antiporter activity. Involved in several processes, including cellular response to cAMP; membrane hyperpolarization; and sperm capacitation. Located in membrane and sperm midpiece. Used to study congenital secretory chloride diarrhea 1. Human ortholog(s) of this gene implicated in congenital secretory chloride diarrhea 1 and diarrhea. Orthologous to human SLC26A3 (solute carrier family 26 member 3). PHENOTYPE: Homozygotes for a null allele display partial postnatal lethality; survivors are small and show lower luminal Cl-/HCO3- exchange activity, acidic chloridorrhea, volume depletion, upregulation of ion transporters, dilated colons, higher crypt proliferation and plasma aldosterone, and premature death. [provided by MGI curators] |