Primary Identifier | MGI:109351 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 20535 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables chloride:bicarbonate antiporter activity. Involved in several processes, including amelogenesis; negative regulation of CD8-positive, alpha-beta T cell activation; and positive regulation of enamel mineralization. Located in basolateral plasma membrane. Is expressed in brain and cornea. Human ortholog(s) of this gene implicated in osteopetrosis. Orthologous to human SLC4A2 (solute carrier family 4 member 2). PHENOTYPE: Mice carrying an isoform-specific allele display male infertility associated with disrupted spermiogenesis and germ cell apoptosis. Mice homozygous for a null allele display perinatal and postnatal lethality, loss of gastric acid secretion, failure of tooth eruption, aphagia, and deafness. [provided by MGI curators] |