PITX3

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.

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.

Clinical significance

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.

References

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.