| Primary Identifier | MGI:2444417 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 225608 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within peripheral nervous system myelin maintenance; regulation of ERBB signaling pathway; and regulation of intracellular protein transport. Located in cytoplasmic vesicle and plasma membrane. Is expressed in several structures, including brain; genitourinary system; submandibular gland; thymus; and trachea. Used to study Charcot-Marie-Tooth disease type 4C. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4C. Orthologous to human SH3TC2 (SH3 domain and tetratricopeptide repeats 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. [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
