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PITX3

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For Research Use Only. Not For Clinical Use.


This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts.
PITX3
Protein class

Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enriched (Skeletal myocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (RH-30)

Interaction

Interacts with SFPQ.

Molecular function

Activator, Developmental protein, DNA-binding

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