| Primary Identifier | MGI:1919192 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 226101 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phospholipid binding activity. Involved in plasma membrane repair and regulation of vascular endothelial growth factor receptor signaling pathway. Acts upstream of or within T-tubule organization; cellular response to heat; and glycerol metabolic process. Located in caveola. Is expressed in genitourinary system; lens; neural tube; and thyroid gland. Human ortholog(s) of this gene implicated in hereditary angioedema. Orthologous to human MYOF (myoferlin). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. [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
