Recombinant Human Forkhead box protein N1 (FOXN1) Protein

Function

Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, including MHC Class II, DLL4, CCL25, CTSL, CD40 and PAX1. Regulates the differentiation of the immature TECs into functional cortical TECs (cTECs) and medullary TECs (mTECs). Essential for maintenance of mTECs population in the postnatal thymus. Involved in the morphogenesis and maintenance of the three-dimensional thymic microstructure which is necessary for a fully functional thymus. Plays an important role in the maintenance of hematopoiesis and particularly T lineage progenitors within the bone marrow niche with age. Essential for the vascularization of the thymus anlage. Promotes the terminal differentiation of epithelial cells in the epidermis and hair follicles, partly by negatively regulating the activity of protein kinase C (By similarity). Plays a crucial role in the early prenatal stages of T-cell ontogeny (PubMed:21507891)

Subcellular Location

Nucleus

Disease Association

T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) : A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. [The disease is caused by variants affecting the gene represented in this entry] | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) : An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. [The disease is caused by variants affecting the gene represented in this entry] | T-cell immunodeficiency with thymic aplasia (TIDTA) : An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in thymus

• Schorpp M. et al. Characterization of mouse and human nude genes. — Immunogenetics (1997)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• Frank J. et al. Exposing the human nude phenotype. — Nature (1999)
• Vigliano I. et al. FOXN1 mutation abrogates prenatal T-cell development in humans. — J. Med. Genet. (2011)
• Chou J. et al. A novel mutation in FOXN1 resulting in SCID: a case report and literature review. — Clin. Immunol. (2014)
• Romano R. et al. FOXN1: a master regulator gene of thymic epithelial development program. — Front. Immunol. (2013)
• Palamaro L. et al. FOXN1 in organ development and human diseases. — Int. Rev. Immunol. (2014)