| Primary Identifier | MGI:1890773 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 60595 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables actin filament binding activity. A structural constituent of cytoskeleton. Involved in several processes, including bicellular tight junction assembly; podocyte cell migration; and protein localization to bicellular tight junction. Acts upstream of or within gene expression. Located in several cellular components, including Z disc; focal adhesion; and pseudopodium. Colocalizes with stress fiber. Is expressed in early conceptus and heart. Used to study focal segmental glomerulosclerosis 1. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis and focal segmental glomerulosclerosis 1. Orthologous to human ACTN4 (actinin alpha 4). PHENOTYPE: Mice homozygous for a disruption in this gene die either around birth or within a few months of birth. Those who do survive after birth show poor growth and kidney abnormalities including glomerulosclerosis. This is manifested functionally as proteinuria and abnormal blood urea nitrogen. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
