Primary Identifier | MGI:87919 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 11519 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of cytoskeleton. Involved in synapse assembly. Acts upstream of or within hemopoiesis. Located in membrane and postsynaptic density. Is expressed in several structures, including central nervous system; liver; retina; spinal ganglion; and turbinate bone primordium. Used to study hereditary spherocytosis type 1. Human ortholog(s) of this gene implicated in IgA glomerulonephritis and hypertension. Orthologous to human ADD2 (adducin 2). PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display mild anemia with compensated hemolysis, marked alteration in osmotic fragility, predominant presence of elliptocytes in the blood and increased blood pressure. [provided by MGI curators] |