Species Human Entrez 5309 | Human Mouse Ensembl ENSG00000107859 | |
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Aliases PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3 External IDs MGI: 1100498 HomoloGene: 3689 GeneCards: PITX3 | ||
Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.
Contents
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
PITX3 Wikipedia(Text) CC BY-SA