FOXN1 Antibody – Rabbit Polyclonal

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]

FOXN1: Transcriptional regulator involved in development. Defects in FOXN1 are the cause of 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.

Protein type: DNA-binding; Transcription factor; Cell development/differentiation

Chromosomal Location of Human Ortholog: 17q11.2

Cellular Component: nucleus

Molecular Function: sequence-specific DNA binding

Biological Process: transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; keratinocyte differentiation; epithelial cell proliferation; organ morphogenesis; epidermis development; hair follicle development; thymus development; regulation of T cell differentiation in the thymus; defense response; lymphocyte homeostasis

Disease: T-cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy