FOXN1

Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]

Forkhead Box N1

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).

Animal organ morphogenesis Source: ProtInc
Blood vessel morphogenesis Source: Ensembl
Defense response Source: ProtInc
Epidermis development Source: ProtInc
Hair follicle development Source: Ensembl
Keratinocyte differentiation Source: Ensembl
Lymphoid lineage cell migration into thymus Source: Ensembl
Nail development Source: Ensembl
Positive regulation of epithelial cell differentiation Source: BHF-UCL
Positive regulation of hair follicle development Source: Ensembl
Regulation of positive thymic T cell selection Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
T cell homeostasis Source: Ensembl
T cell lineage commitment Source: Ensembl
Thymus epithelium morphogenesis Source: Ensembl

Nucleus

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.
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND):
n 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.
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.