Primary Identifier | MGI:99670 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 13829 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity; signaling receptor binding activity; and spectrin binding activity. Involved in several processes, including negative regulation of cell-substrate adhesion; negative regulation of protein phosphorylation; and negative regulation of protein targeting to membrane. Located in several cellular components, including cortical cytoskeleton; perinuclear region of cytoplasm; and postsynaptic density. Is active in synapse. Is expressed in central nervous system; dorsal root ganglion; liver lobe; and sensory organ. Orthologous to human DMTN (dematin actin binding protein). PHENOTYPE: Mice homozygous for a targeted mutation display mild anemia and spherocytosis. Mutant erythrocytes are osmotically fragile and show reduced deformability and filterability as well as increased membrane fragmentation and selective loss of spectrin and actin from RBC membrane skeletons and vesicles. [provided by MGI curators] |