Primary Identifier | MGI:2183439 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 193813 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Predicted to be involved in protein transport and vesicle-mediated transport. Predicted to act upstream of or within carboxylic acid metabolic process. Predicted to be located in extracellular region. Is expressed in central nervous system; chondrocranium; jaw; pancreas epithelium; and retina. Orthologous to human MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit). PHENOTYPE: Mice homozygous for a null allele exhibit decreased serum factor V and VIII and aspartate transaminase serum levels with accumulation of the proteins in the ER of hepatocytes. [provided by MGI curators] |