Primary Identifier | MGI:1347481 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 14234 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and promoter-specific chromatin binding activity. Involved in several processes, including positive regulation of cell migration involved in sprouting angiogenesis; positive regulation of vascular wound healing; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including cell surface receptor signaling pathway; circulatory system development; and kidney development. Predicted to be located in nuclear body. Is expressed in several structures, including cardiovascular system; central nervous system; embryo mesenchyme; limb long bone; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including lymphedema; lymphedema-distichiasis syndrome; obesity; ptosis; and type 2 diabetes mellitus. Orthologous to human FOXC2 (forkhead box C2). PHENOTYPE: Homozygotes for targeted null mutations die perinatally or before with cardiac abnormalities and skeletal defects in the neurocranium and spine. Heterozygotes exhibit lymphatic vessel and lymph node hyperplasia, anterior segment defects, and distichiasis. [provided by MGI curators] |