PITX3
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.[1][2]
Function
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.[2]
Clinical significance
Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.[2]
References
Further reading
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PDB gallery
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External links
- PITX3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
