| Primary Identifier | MGI:1921372 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 74122 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables identical protein binding activity. Acts upstream of or within several processes, including memory; nuclear membrane organization; and positive regulation of cell communication by electrical coupling. Located in endoplasmic reticulum lumen and nuclear inner membrane. Is expressed in several structures, including aorta; cartilage; future spinal cord; genitourinary system; and oral epithelium. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 5; autosomal dominant Emery-Dreifuss muscular dystrophy 7; and autosomal dominant auditory neuropathy 3. Orthologous to human TMEM43 (transmembrane protein 43). PHENOTYPE: Female homozygous mutant mice exhibited an increased anxiety-like response during open field activity testing when compared with their sex-matched wild-type littermates and the historical mean. Homozygous KO or certain codon substitution mutants do not affect heart function. A nonsense mutation leads to auditory neuropathy spectrum disorder (ANSD). Homozygosity for the human-disease-related p.S358L leads to cardiac fibrosis, increased heart weight and fat content and left ventricular morphological changes. [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
