| Primary Identifier | MGI:3584043 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 231134 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol binding activity; protein kinase binding activity; and signaling adaptor activity. Involved in several processes, including positive regulation of Rac protein signal transduction; positive regulation of protein tyrosine kinase activity; and positive regulation of skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within neuromuscular junction development; positive regulation of protein phosphorylation; and receptor clustering. Is active in neuromuscular junction and postsynaptic membrane. Is expressed in several structures, including central nervous system; heart; musculature; and testis. Used to study congenital myasthenic syndrome 10. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 10 and fetal akinesia deformation sequence syndrome 3. Orthologous to human DOK7 (docking protein 7). PHENOTYPE: Homozygous mutation of this gene results in death shortly after birth, impaired neuromuscular synaptogenesis and akinesia. [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
