Primary Identifier | MGI:2681862 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 380698 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cadherin binding activity; phosphatidylinositol bisphosphate binding activity; and protein kinase activity. Involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction and protein autophosphorylation. Located in several cellular components, including intercalated disc; sarcolemma; and sarcomere. Is expressed in diaphragm; limb segment; and skeletal musculature. Orthologous to human OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF). PHENOTYPE: Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice. [provided by MGI curators] |