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 8.0.0) Enables gamma-glutamyl carboxylase activity. Involved in peptidyl-glutamic acid carboxylation; protein maturation; and vitamin K metabolic process. Is active in endoplasmic reticulum lumen. 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] |