Primary Identifier | MGI:2385902 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233489 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including SH3 domain binding activity; clathrin heavy chain binding activity; and phosphatidylinositol binding activity. Involved in several processes, including amyloid-beta clearance by transcytosis; neuron projection morphogenesis; and positive regulation of amyloid-beta formation. Located in clathrin-coated pit and vesicle. Colocalizes with perinuclear region of cytoplasm. Is expressed in several structures, including aorta; brain; hemolymphoid system gland; liver; and lung. Human ortholog(s) of this gene implicated in acute myeloid leukemia. Orthologous to human PICALM (phosphatidylinositol binding clathrin assembly protein). PHENOTYPE: Mice homozygous for different ENU-induced mutations or knock-out alleles are small, runted and display anemia of variable severity. [provided by MGI curators] |