Primary Identifier | MGI:108176 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 19153 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including myelination in peripheral nervous system; regulation of RNA splicing; and transmission of nerve impulse. Located in cytosol; nuclear speck; and plasma membrane. Is expressed in sciatic nerve and trigeminal nerve. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 3 and Charcot-Marie-Tooth disease type 4F. Orthologous to human PRX (periaxin). PHENOTYPE: Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. [provided by MGI curators] |