Primary Identifier | MGI:1917611 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 70361 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable D-mannose binding activity; identical protein binding activity; and metal ion binding activity. Acts upstream of or within endoplasmic reticulum organization. Located in several cellular components, including COPII-coated ER to Golgi transport vesicle; endoplasmic reticulum-Golgi intermediate compartment; and sarcomere. Is expressed in pancreas epithelium and skeletal muscle. Human ortholog(s) of this gene implicated in factor V deficiency and factor XIII deficiency. Orthologous to human LMAN1 (lectin, mannose binding 1). PHENOTYPE: Mice homozygous for a gene trap allele exhibit strain dependent postnatal lethality, slightly dilated endoplasmic reticulum in hepatocytes, and decreased serum levels of factor V and VII and aspartate transaminase with accumulation of those proteins in those ER of hepatocytes. [provided by MGI curators] |