IRF6
The epidermis is a highly organized structure, the integrity of which is central to the protection of an organism. Development and subsequent maintenance of this tissue depends critically on the intricate balance between proliferation and differentiation of a resident stem cell population. IRF6 controls on the signals controlling the proliferation-differentiation switch.
Etiology
germline mutations in the IRF6 gene in
- Van der Woude syndrome type 1 (MIM.119300) -* popliteal pterygium syndrome (MIM.119500)
See also
References
Richardson RJ, Dixon J, Malhotra S, Hardman MJ, Knowles L, Boot-Handford RP, Shore P, Whitmarsh A, Dixon MJ. Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. Nat Genet. 2006 Nov;38(11):1329-34. PMID: 17041603
Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S, Trout KJ, Malik MI, Dunnwald M, Goudy SL, Lovett M, Murray JC, Schutte BC. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet. 2006 Nov;38(11):1335-40. PMID: 17041601