Primary Identifier | MGI:1329042 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 20392 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Located in Golgi apparatus and dendrite membrane. Part of sarcoglycan complex. Is expressed in several structures, including extraembryonic component; heart; liver; lung; and placenta. Used to study myoclonic dystonia 11. Human ortholog(s) of this gene implicated in myoclonic dystonia 11. Orthologous to human SGCE (sarcoglycan epsilon). PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance. [provided by MGI curators] |