Biology:PITX3

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Short description: Protein-coding gene


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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] and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.[3]

Clinical significance

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.[2]

References

  1. "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD". Nature Genetics 19 (2): 167–70. June 1998. doi:10.1038/527. PMID 9620774. 
  2. 2.0 2.1 2.2 "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5309. 
  3. "Early developmental failure of substantia nigra dopamine neurons in mice lacking the homeodomain gene Pitx3". Development 131 (5): 1145–55. March 2004. doi:10.1242/dev.01022. PMID 14973278. 

Further reading

External links

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