forkhead box protein C2; forkhead-related protein 14; drosophila forkhead homolog-like 14 (FOXC2, FKHL14)
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Function
- transcriptional activator
- role in formation of special mesenchymal tissues
- key regulator of adipocyte metabolism[2]
- increases sensitivity of beta-adrenergic- cAMP protein kinase A signalling pathway through alteration of adipocyte PKA holoenzyme composition
- in mice, increased FOXC2 levels induced by high fat diet protects against obesity, diet-induced insulin resistance & hypertriglyceridemia
Structure
contains 1 fork-head DNA-binding domain
Compartment
Pathology
- gene mutations found in lymphedema-distichiasis syndrome[1]
- defects in FOXC2 are the cause of hereditary lymphedema 2
- defects in FOXC2 are a cause of lymphedema & ptosis
- defects in FOXC2 are a cause of yellow nail syndrome
- defects in FOXC2 are a cause of lymphedema-distichiasis
More general terms
References
- ↑ 1.0 1.1 OMIM #153400, 602402
- ↑ 2.0 2.1 Cederberg et al. Cell 106:563-73, 2001
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2303
- ↑ UniProt http://www.uniprot.org/uniprot/Q99958.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXC2