Primary Identifier | MGI:1927655 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 56316 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables gamma-glutamyl carboxylase activity. Predicted to be involved in vitamin K metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in liver. Human ortholog(s) of this gene implicated in combined deficiency of vitamin K-dependent clotting factors 1. Orthologous to human GGCX (gamma-glutamyl carboxylase). PHENOTYPE: Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. [provided by MGI curators] |