| Primary Identifier | MGI:94909 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 13405 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables nitric-oxide synthase binding activity. Involved in several processes, including negative regulation of protein modification process; positive regulation of cell-matrix adhesion; and regulation of monoatomic cation transmembrane transport. Acts upstream of with a positive effect on cholinergic synaptic transmission. Acts upstream of or within several processes, including determination of adult lifespan; muscle cell cellular homeostasis; and nervous system development. Located in several cellular components, including Z disc; cell-substrate junction; and sarcolemma. Part of dystrophin-associated glycoprotein complex. Is active in GABA-ergic synapse and postsynaptic specialization. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genital tubercle; and musculature. Used to study Becker muscular dystrophy and Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (dystrophin). PHENOTYPE: Mutations in this gene cause muscular dystrophy. Phenotypic variation has been observed in different backgrounds. [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
