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 8.0.0) 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; cornea; and testis. 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] |