• Source: 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, and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.




Clinical significance


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




References






Further reading






External links


PITX3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Kata Kunci Pencarian:

• PITX3
• Homeobox
• List of human protein-coding genes 3
• List of human transcription factors
• Congenital cataract
• Nuclear receptor 4A2
• List of OMIM disorder codes
• LMX1B
• Mir-133 microRNA precursor family
• PTPRU