Primary Identifier | MGI:2140300 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 329828 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Acts upstream of or within positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and skeletal muscle fiber development. Located in endoplasmic reticulum membrane and nuclear membrane. Is expressed in several structures, including alimentary system; brain; connective tissue; genitourinary system; and hemolymphoid system gland. Used to study basal ganglia calcification. Human ortholog(s) of this gene implicated in basal ganglia calcification. Orthologous to human MYORG (myogenesis regulating glycosidase). PHENOTYPE: Homozygous null mice develop brain calcification at 9 months of age. [provided by MGI curators] |