Primary Identifier | MGI:1889583 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 58194 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable molecular adaptor activity and ubiquitin protein ligase binding activity. Predicted to be involved in several processes, including positive regulation of B cell activation; regulation of cell shape; and ubiquitin-dependent endocytosis. Located in cell-cell junction and endocytic vesicle. Is expressed in cerebral cortex intermediate zone; cortical plate; and embryo. Human ortholog(s) of this gene implicated in immunodeficiency 61. Orthologous to human SH3KBP1 (SH3 domain containing kinase binding protein 1). PHENOTYPE: Mice homozygous for a null allele have an increased lean body mass, increased dopamine in the striatum and behavioral abnormalities. [provided by MGI curators] |