PITX3

Paired-like homeodomain 3
PDB rendering based on 1yz8.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2LKX​
Identifiers
Symbols	PITX3 ; ASMD; ASOD; CTPP4; CTRCT11; PTX3
External IDs	OMIM: 602669 MGI: 1100498 HomoloGene: 3689 GeneCards: PITX3 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Cellular component • nucleus Biological process • lens development in camera-type eye • lens morphogenesis in camera-type eye • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • locomotory behavior • organ morphogenesis • midbrain development • positive regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • neuron development • lens fiber cell differentiation • dopaminergic neuron differentiation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5309	18742
Ensembl	ENSG00000107859	ENSMUSG00000025229
UniProt	O75364	O35160
RefSeq (mRNA)	NM_005029	NM_008852
RefSeq (protein)	NP_005020	NP_032878
Location (UCSC)	Chr 10: 102.23 – 102.24 Mb	Chr 19: 46.14 – 46.15 Mb
PubMed search

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]

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 (Jul 1998). "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD". Nat Genet 19 (2): 167–70. doi:10.1038/527. PMID 9620774.
2. "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3".

Further reading

• Smits SM, Smidt MP (2006). "The role of Pitx3 in survival of midbrain dopaminergic neurons". J. Neural Transm. Suppl. Journal of Neural Transmission. Supplementa 70 (70): 57–60. doi:10.1007/978-3-211-45295-0_10. ISBN 978-3-211-28927-3. PMID 17017509. |chapter= ignored (help)
• Hittner HM, Kretzer FL, Antoszyk JH, et al. (1982). "Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations". Am. J. Ophthalmol. 93 (1): 57–70. PMID 6801987.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Berry V, Yang Z, Addison PK, et al. (2004). "Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)". J. Med. Genet. 41 (8): e109. doi:10.1136/jmg.2004.020289. PMC 1735853. PMID 15286169.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Finzi S, Li Y, Mitchell TN, et al. (2005). "Posterior polar cataract: genetic analysis of a large family". Ophthalmic Genet. 26 (3): 125–30. doi:10.1080/13816810500229124. PMID 16272057.
• Martinat C, Bacci JJ, Leete T, et al. (2006). "Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype". Proc. Natl. Acad. Sci. U.S.A. 103 (8): 2874–9. doi:10.1073/pnas.0511153103. PMC 1413837. PMID 16477036.
• Bidinost C, Matsumoto M, Chung D, et al. (2006). "Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities". Invest. Ophthalmol. Vis. Sci. 47 (4): 1274–80. doi:10.1167/iovs.05-1095. PMID 16565358.
• Burdon KP, McKay JD, Wirth MG, et al. (2006). "The PITX3 gene in posterior polar congenital cataract in Australia". Mol. Vis. 12: 367–71. PMID 16636655.
• Sakazume S, Sorokina E, Iwamoto Y, Semina EV (2007). "Functional analysis of human mutations in homeodomain transcription factor PITX3". BMC Mol. Biol. 8: 84. doi:10.1186/1471-2199-8-84. PMC 2093940. PMID 17888164.

External links

• PITX3 protein, human at the US 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.