Primary Identifier | MGI:109474 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 17846 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including low-density lipoprotein particle receptor binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and phospholipid binding activity. Acts upstream of or within several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and positive regulation of protein localization. Located in endosome. Is expressed in several structures, including central nervous system; extraembryonic component; future brain; limb bud; and otocyst. Orthologous to human COMMD1 (copper metabolism domain containing 1). PHENOTYPE: Mice homozygous for a null allele are embryonic lethal with growth retardation, failure to turn, increased apoptosis in brain mesenchyme and defects in extraembryonic tissue development. [provided by MGI curators] |