FOXC2

Function

Transcriptional activator.

Involvement in disease

Lymphedema-distichiasis syndrome

LPHDST

An autosomal dominant disorder characterized by primary limb lymphedema associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Swelling of the extremities, due to altered lymphatic flow, usually appears in late childhood or puberty. Most affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylation regulates FOXC2 transcriptional activity by promoting its recruitment to chromatin.

Cellular localization

• Nucleus

Alternative names

FKHL14, MFH1, FOXC2, Forkhead box protein C2, Forkhead-related protein FKHL14, Mesenchyme fork head protein 1, Transcription factor FKH-14, MFH-1 protein

Database links

swissprot:Q99958 entrezGene:2303 omim:602402

Other research areas

• Oncology