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SIX3 May be involved in visual system development. Defects in SIX3 are the cause of holoprosencephaly type 2 (HPE2). Holoprosencephaly (HPE) is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Belongs to the SIX/Sine oculis homeobox family. Note: This description may include information from UniProtKB.
Protein type: Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: 17 E4|17 55.42 cM
Cellular Component: nucleus
Molecular Function: DNA binding; DNA binding transcription factor activity; histone deacetylase binding; protein binding; receptor binding; sequence-specific DNA binding; transcription coactivator activity; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
Biological Process: brain development; camera-type eye development; cell proliferation in forebrain; circadian behavior; diencephalon development; epithelial cell maturation; eye development; forebrain anterior/posterior pattern specification; forebrain dorsal/ventral pattern formation; lens development in camera-type eye; multicellular organism development; negative regulation of neuron differentiation; negative regulation of transcription, DNA-dependent; negative regulation of Wnt signaling pathway; neuroblast differentiation; pituitary gland development; positive regulation of transcription from RNA polymerase II promoter; protein import into nucleus; protein import into nucleus, translocation; proximal/distal axis specification; regulation of cell proliferation; regulation of transcription, DNA-templated; telencephalon development; telencephalon regionalization; transcription, DNA-dependent
Reference #:  Q62233 (UniProtKB)
Alt. Names/Synonyms: E130112M24Rik; Homeobox protein SIX3; Sine oculis homeobox homolog 3; sine oculis-related homeobox 3 homolog (Drosophila); Six3; Six3a; Six3alpha; Six3b; Six3beta
Gene Symbols: Six3
Molecular weight: 35,593 Da
Basal Isoelectric point: 8.88  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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