PITX3

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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View/Edit Human

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. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC (June 1998). "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD". Nature Genetics. 19 (2): 167–70. doi:10.1038/527. PMID 9620774.
  2. 2.0 2.1 2.2 "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3".
  3. Smidt MP, Smits SM, Bouwmeester H, Hamers FP, van der Linden AJ, Hellemons AJ, Graw J, Burbach JP (March 2004). "Early developmental failure of substantia nigra dopamine neurons in mice lacking the homeodomain gene Pitx3". Development. 131 (5): 1145–55. 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.



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