FOXC2 Antibody – Rabbit Polyclonal

Function: Transcriptional activator. Might be involved in the formation of special mesenchymal tissues. Ref.1

Subcellular location: Nucleus Ref.13.

Post-translational modification: Phosphorylation regulates FOXC2 transcriptional activity by promoting its recruitment to chromatin.

Involvement in disease: Lymphedema, hereditary, 2 (LMPH2) [MIM:153200]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4Lymphedema-yellow nails (LYYN) [MIM:153300]: A disorder 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.Note: The disease is caused by mutations affecting the gene represented in this entry.Lymphedema-distichiasis (LYD) [MIM:153400]: A disorder 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). Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

Sequence similarities: Contains 1 fork-head DNA-binding domain.