background:
FOXC2 is a member of forkhead/winged helix transcription factor family, whose members serve as key regulators in embryogenesis and cell differentiation (3). FOXC2 functions as a key regulator of adipocyte metabolism by increasing the sensitivity of the beta-adrenergic-cAMP-protein kinase A (PKA) signaling pathway through alteration of adipocyte PKA holoenzyme composition (4). Increased FOXC2 levels, induced by high fat diet, seem to counteract most of the symptoms associated with obesity (4). FOXC2 expression is also associated with the early stage of chondrogenic differentiation both in vivo and in vitro (3). FOXC2 haploinsufficiency results in Lymphedema-distichiasis (LD), an autosomal dominant disorder that classically presents as lymphedema of the limbs, and double rows of eyelashes (distichiasis) (5). Mutant mice null for FOXC2 show defects in axial and cranial skeletogenesis, suggesting a requirement of FOXC2 for skeletal tissue development (3). FOXC2 interacts with FOXC1 in the Notch signaling pathway (1) and in kidney and heart development (2).
Function:
Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.
Subcellular Location:
Nucleus.
DISEASE:
Defects in FOXC2 are the cause of lymphedema hereditary type 2 (LMPH2) [MIM:15640]; 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) [MIM:153300]. 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) [MIM:153400]. 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).
Similarity:
Contains 1 fork-head DNA-binding domain.
Database links:
UniProtKB/Swiss-Prot: Q99958.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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