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 7.1.0) Predicted to enable calcium ion binding activity. 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] |