Primary Identifier | MGI:1891396 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 170643 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable cell adhesion molecule binding activity and myosin binding activity. Acts upstream of or within several processes, including negative regulation of protein phosphorylation; positive regulation of actin filament polymerization; and renal protein absorption. Located in cell-cell junction; dendritic shaft; and plasma membrane. Is expressed in several structures, including brain; craniocervical region bone; heart; limb primordium; and sensory organ. Human ortholog(s) of this gene implicated in nephrotic syndrome type 23. Orthologous to human KIRREL1 (kirre like nephrin family adhesion molecule 1). PHENOTYPE: Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria. [provided by MGI curators] |