Primary Identifier | MGI:2441932 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 213760 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables peptidase activity. Involved in Golgi to plasma membrane protein transport and retrograde transport, endosome to Golgi. Located in Golgi apparatus and cytoskeleton. Colocalizes with trans-Golgi network. Is expressed in several structures, including diaphragm; nervous system; retina; tongue; and vertebral axis musculature. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 22. Orthologous to human PREPL (prolyl endopeptidase like). PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired growth and neonatal hypotonia. [provided by MGI curators] |