Primary Identifier | MGI:95407 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 13856 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables protein kinase activator activity. Involved in negative regulation of apoptotic process. Acts upstream of or within several processes, including embryo implantation; erythrocyte differentiation; and hemoglobin biosynthetic process. Located in extracellular space. Is expressed in several structures, including egg cylinder; embryo mesenchyme; embryo mesoderm; nervous system; and placenta. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); diabetic angiopathy; familial erythrocytosis 5; ischemia (multiple); and neurodegenerative disease (multiple). Orthologous to human EPO (erythropoietin). PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced primitive erythropoiesis and die around embryonic day 13 due to impaired fetal liver erythropoiesis. [provided by MGI curators] |