Primary Identifier | MGI:95401 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 269587 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 1-phosphatidylinositol binding activity; cytoskeletal protein binding activity; and phosphoprotein binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in regulation of calcium ion transport and regulation of intestinal absorption. Located in basolateral plasma membrane and cortical cytoskeleton. Is expressed in several structures, including alimentary system; brain; connective tissue; eye; and genitourinary system. Used to study hereditary elliptocytosis. Orthologous to human EPB41 (erythrocyte membrane protein band 4.1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin. [provided by MGI curators] |