POU6F2 Antibody – Goat Polyclonal

This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

POU6F2: Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA. Defects in POU6F2 are a cause of hereditary susceptibility to Wilms tumor 5 (WT5). WT5 is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. Belongs to the POU transcription factor family. Class- 6 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 7p14.1

Cellular Component: nucleus

Molecular Function: DNA binding; transcription factor activity

Biological Process: central nervous system development; ganglion mother cell fate determination; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; visual perception

Disease: Wilms Tumor 5