| Primary Identifier | MGI:1859637 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 54631 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable cell adhesion molecule binding activity; cytoskeletal protein binding activity; and protein domain specific binding activity. Involved in myoblast fusion; skeletal muscle tissue development; and slit diaphragm assembly. Acts upstream of or within several processes, including JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in cell projection; focal adhesion; and plasma membrane. Is active in cell periphery. Is expressed in central nervous system; metanephros; and skeletal muscle. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin). PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes. [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
