Primary Identifier | MGI:98664 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 21687 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein tyrosine kinase activity and signaling receptor activity. Involved in several processes, including circulatory system development; negative regulation of endothelial cell apoptotic process; and response to retinoic acid. Acts upstream of or within several processes, including positive regulation of macromolecule metabolic process; positive regulation of protein import into nucleus; and regulation of non-canonical NF-kappaB signal transduction. Located in perinuclear region of cytoplasm. Is expressed in several structures, including cardiovascular system; central nervous system; extraembryonic component; genitourinary system; and immune system. Human ortholog(s) of this gene implicated in arteriovenous malformation; multiple cutaneous and mucosal venous malformations; and renal Wilms' tumor. Orthologous to human TEK (TEK receptor tyrosine kinase). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages. [provided by MGI curators] |