Primary Identifier | MGI:1353420 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 26549 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium ion binding activity and zinc ion binding activity. Predicted to be involved in centrosome duplication. Located in Z disc. Is expressed in several structures, including diaphragm; limb mesenchyme; skeletal musculature; tarsus rest of mesenchyme; and tongue. Orthologous to human ITGB1BP2 (integrin subunit beta 1 binding protein 2). PHENOTYPE: Mutant animals show normal cardiac structure and function under physiological conditions. When subjected to pressure overload, mutant hearts display contractile dysfunction and dilated cardiomyopathy. [provided by MGI curators] |