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Paired-like homeodomain transcription factor 3

PDB rendering based on 1yz8.
Available structures
1yz8
Identifiers
Symbols PITX3; MGC12766; PTX3
External IDs OMIM602669 MGI1100498 HomoloGene3689 GeneCards: PITX3 Gene
RNA expression pattern
PBB GE PITX3 208277 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5309 18742
Ensembl ENSG00000107859 ENSMUSG00000025229
UniProt O75364 Q0VB03
RefSeq (mRNA) NM_005029 NM_008852
RefSeq (protein) NP_005020 NP_032878
Location (UCSC) Chr 10:
103.98 - 103.99 Mb
Chr 19:
46.19 - 46.2 Mb
PubMed search [1] [2]

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.[1][2]

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. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts. This protein is involved in lens formation during eye development.[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. ^ a b "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5309.  

Further reading

  • Smits SM, Smidt MP (2006). "The role of Pitx3 in survival of midbrain dopaminergic neurons.". J. Neural Transm. Suppl. 70 (70): 57–60. doi:10.1007/978-3-211-45295-0_10. PMID 17017509.  
  • 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. 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. 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. 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. 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. PMID 17888164.  

External links

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

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