Primary Identifier | MGI:1891421 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 67943 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity and low-density lipoprotein particle receptor binding activity. Involved in phagocytosis and positive regulation of skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within protein folding and protein localization to cell surface. Located in plasma membrane. Is expressed in several structures, including 4-cell stage embryo; genitourinary system; hemolymphoid system; liver; and ventricular layer. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 20. Orthologous to human MESD (mesoderm development LRP chaperone). PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure to form the primitive stream and absence of mesodermal derivatives. [provided by MGI curators] |