background:
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.
Function:
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.
Subcellular Location:
Nucleus
Tissue Specificity:
Expressed only within the CNS, where its expression is restricted to the medical habenulla, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina.
DISEASE:
Defects in POU6F2 are a cause of hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]. WT5 is a pediatric malignancy of kidney and one of the most common solid cancers in childhood.
Similarity:
Belongs to the POU transcription factor family. Class-6 subfamily.
Contains 1 homeobox DNA-binding domain.
Contains 1 POU-specific domain.
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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