| 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 8.0.0) Enables identical protein binding activity. Acts upstream of or within nuclear membrane organization. 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: In a high-throughput screen, female homozygous mutant mice exhibited an increased anxiety-like response during open field activity testing when compared with their gender-matched wild-type littermates and the historical mean. Homozygous KO or certain codon substitution mutants don't affect heart function. A nonsense mutation leads to auditory neuropathy spectrum disorder (ANSD). [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
