Primary Identifier | MGI:1330838 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 19141 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type endopeptidase activity. Involved in several processes, including dendritic spine organization; learning or memory; and positive regulation of long-term synaptic potentiation. Acts upstream of or within regulation of growth. Located in apical part of cell; late endosome; and lysosome. Is expressed in several structures, including brain; jaw bone; and metanephros. Used to study lymphatic system disease. Orthologous to human LGMN (legumain). PHENOTYPE: Homozygotes for a null allele exhibit slow postnatal weight gain, develop features of hemophagocytic syndrome, and accumulate giant lysosomes in renal tubule cells. Homozygotes for another null allele display impaired TLR9 signaling in dendritic cells, progressive kidney pathology, and proteinuria. [provided by MGI curators] |