Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of epithelial cell differentiation. Predicted to be located in chromatin. Implicated in T-cell immunodeficiency, congenital alopecia, and nail dystrophy; alopecia; nail disease; and primary immunodeficiency disease.
RGD Description
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]