| Primary Identifier | MGI:109393 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 20533 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ankyrin binding activity; chloride:bicarbonate antiporter activity; and hemoglobin binding activity. Involved in chloride transport. Acts upstream of or within several processes, including bicarbonate transport; negative regulation of glycolytic process through fructose-6-phosphate; and pH elevation. Located in basolateral plasma membrane; cortical cytoskeleton; and cytoplasmic side of plasma membrane. Is expressed in several structures, including blood; cardiovascular system; liver; lung; and metanephros. Used to study hereditary spherocytosis type 4 and renal tubular acidosis. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; and renal tubular acidosis. Orthologous to human SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). PHENOTYPE: Homozygotes for null mutations exhibit retarded growth, severe spherocytosis, hemolytic anemia, lack of erythrocyte glycophorin A, mitotic defects, and high postnatal mortality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
