Summary
Performance
Immunogen
Application
Background
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008],disease:Defects in FOXD3 are associated with susceptibility to autoimmune disease type 1 (AIS1) [MIM:607836]; also called vitiligo-associated multiple autoimmune disease susceptibility type 2 (VAMAS2). Generalized vitiligo is an acquired disorder in which white patches of skin and hair result from autoimmune loss of melanocytes, often associated with other autoimmune disorders. Most cases occur in a sporadic family pattern suggesting polygenic, multifactorial inheritance. However, a striking family in which a somewhat unusual vitiligo phenotype has been described, characterized by progressively coalescent diffuse depigmentation and relatively early disease onset, segregated as an apparent autosomal dominant with incomplete penetrance.,function:Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor. Also acts as a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis.,similarity:Contains 1 fork-head DNA-binding domain.,tissue specificity:Expressed in chronic myeloid leukemia, Jurkat T-cell leukemia and teratocarcinoma cell lines, but not in any other cell lines or normal tissues examined.,
Research Area
