Primary Identifier | MGI:98387 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 20741 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables actin filament binding activity. Acts upstream of or within hemopoiesis; plasma membrane organization; and porphyrin-containing compound biosynthetic process. Located in cortical cytoskeleton; plasma membrane; and spectrin-associated cytoskeleton. Is expressed in brain; liver; and spleen. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 2. Orthologous to human SPTB (spectrin beta, erythrocytic). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic. [provided by MGI curators] |