| Primary Identifier | MGI:1927152 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 64009 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin filament binding activity and protein homodimerization activity. Involved in centrosome localization and regulation of cilium assembly. Acts upstream of or within nuclear migration. Located in nuclear envelope. Is expressed in several structures, including alimentary system; ear; genitourinary system; musculoskeletal system; and nervous system. Used to study Emery-Dreifuss muscular dystrophy. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita (multiple); bipolar disorder; cerebellar ataxia (multiple); and muscular dystrophy (multiple). Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1). PHENOTYPE: Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness. [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
