| Primary Identifier | MGI:3606571 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 237611 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Involved in positive regulation of protein localization to plasma membrane and positive regulation of voltage-gated calcium channel activity. Acts upstream of or within skeletal muscle fiber development. Located in cytoplasmic side of plasma membrane and cytosol. Part of voltage-gated calcium channel complex. Is expressed in limb musculature; somite; and tongue. Human ortholog(s) of this gene implicated in Native American myopathy. Orthologous to human STAC3 (SH3 and cysteine rich domain 3). PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, abnormal posture, thin diaphragm muscle, abnormal skeletal muscle morphology characterized by centralized nuclei and disorganized myofibrils, and impaired skeletal muscle contractility due to defective excitation-contraction coupling. [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
