Primary Identifier | MGI:1195268 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 18391 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling receptor activity. Predicted to be involved in nervous system development; protein homotrimerization; and regulation of neuron apoptotic process. Located in postsynaptic density. Is active in postsynapse. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 16 and autosomal recessive distal hereditary motor neuronopathy 2. Orthologous to human SIGMAR1 (sigma non-opioid intracellular receptor 1). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal motor coordination and increased depressive-like behavior. Mice homozygous for a knock-out allele exhibit reduced sponataneous activity. [provided by MGI curators] |