Primary Identifier | MGI:2141180 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 170823 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hepatocyte growth factor receptor binding activity; ubiquitin protein ligase binding activity; and ubiquitin-protein transferase inhibitor activity. Acts upstream of or within circulatory system development and neural tube closure. Predicted to be part of Cul2-RING ubiquitin ligase complex; Cul3-RING ubiquitin ligase complex; and Cul4A-RING E3 ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in several structures, including arterial system; respiratory system; skeleton; skin; and urinary system. Human ortholog(s) of this gene implicated in arteriovenous malformation; glomangioma; and glomus tumor. Orthologous to human GLMN (glomulin, FKBP associated protein). PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity. [provided by MGI curators] |