Primary Identifier | MGI:1931256 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 65969 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cargo receptor activity; hemoglobin binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including lipoprotein transport; receptor-mediated endocytosis; and response to bacterium. Located in several cellular components, including brush border; clathrin-coated pit; and cytoplasmic vesicle. Is active in microvillus membrane. Is expressed in several structures, including egg cylinder; embryo endoderm; genitourinary system; and midgut. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human CUBN (cubilin). PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death. [provided by MGI curators] |