FOXC2 Antibody – Mouse Monoclonal

FOXC2: Transcriptional activator. Might be involved in the formation of special mesenchymal tissues. Defects in FOXC2 are the cause of lymphedema hereditary type 2 (LMPH2); also known as Meige lymphedema. Hereditary lymphedema is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. Defects in FOXC2 are a cause of lymphedema-yellow nails (LYYN). LYYN is characterized by yellow, dystrophic, thick and slowly growing nails, associated with lymphedema and respiratory involvement. Lymphedema occurs more often in the lower limbs. It can appear at birth or later in life. Onset generally follows the onset of ungual abnormalities. Defects in FOXC2 are a cause of lymphedema-distichiasis (LYD). LYD is characterized by primary limb lymphedema usually starting at puberty (but in some cases later or at birth) and associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices).

Protein type: Cell development/differentiation; Transcription factor; Apoptosis; DNA-binding

Chromosomal Location of Human Ortholog: 16q24.1

Cellular Component: nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; chromatin DNA binding; sequence-specific DNA binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; collagen fibril organization; neural crest cell development; heart development; positive regulation of transcription, DNA-dependent; response to hormone stimulus; cardiac muscle cell proliferation; negative regulation of transcription from RNA polymerase II promoter; ureteric bud development; lymphangiogenesis; ventricular cardiac muscle morphogenesis; mesoderm development; regulation of blood vessel size; somitogenesis; Notch signaling pathway; ossification; camera-type eye development; positive regulation of cell adhesion mediated by integrin; regulation of organ growth; embryonic viscerocranium morphogenesis; regulation of transcription from RNA polymerase II promoter; patterning of blood vessels; paraxial mesodermal cell fate commitment; insulin receptor signaling pathway; artery morphogenesis; embryonic heart tube development; positive regulation of transcription from RNA polymerase II promoter; blood vessel remodeling; vascular endothelial growth factor receptor signaling pathway; metanephros development

Disease: Lymphedema-distichiasis Syndrome