Primary Identifier | MGI:1195267 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 16202 |
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 ATP binding activity; SH3 domain binding activity; and magnesium ion binding activity. Involved in several processes, including caveola assembly; positive regulation of BMP signaling pathway; and positive regulation of osteoblast differentiation. Acts upstream of or within several processes, including branching involved in ureteric bud morphogenesis; nervous system development; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in focal adhesion and lamellipodium. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and retina. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in pancreatic cancer. Orthologous to human ILK (integrin linked kinase). PHENOTYPE: Nullizygous embryos do not polarize the epiblast and die after implantation. Mice with mutations in the ATP-binding site show aphagia, hunched posture, and neonatal death due to renal aplasia. Mice with mutations in the paxillin-binding site show vasculogenesis and growth defects, and die at ~E12.5. [provided by MGI curators] |