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Gene Review

PITX3  -  paired-like homeodomain 3

Homo sapiens

Synonyms: ASMD, ASOD, CTPP4, CTRCT11, Homeobox protein PITX3, ...
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Disease relevance of PITX3


High impact information on PITX3

  • The phenotype in these individuals highlights the role of PITX3 in ocular and central nervous system (CNS) development [3].
  • METHODS: A genome-wide screen, linkage analysis in the PITX3 chromosomal region 10q25, haplotype analysis, and sequencing of the PITX3 gene were performed on 28 affected and 14 unaffected member of a three-generation Lebanese family [3].
  • PURPOSE: The PITX3 gene, which codes for a homeobox bicoidlike transcription factor is responsible for dominant cataract and anterior segment mesenchymal dysgenesis in humans [3].
  • Overexpression of pitx3 upregulates expression of BDNF and GDNF in SH-SY5Y cells and primary ventral mesencephalic cultures [2].
  • The transcription factor Pitx3 plays an important role in the development of midbrain to promote the growth and differentiation of dopamine neurons [2].

Biological context of PITX3

  • RESULTS: Linkage was detected to a region of chromosome 10q23-26 which contains the candidate gene PITX3 [4].
  • RESULTS: In all three families, an identical 17 base pair duplication mutation in PITX3 was identified which co-segregated with disease status in the family [5].
  • This suggests the lens is required for retinal development or Pitx3 has an unexpected role in retinal cell differentiation or survival [6].

Anatomical context of PITX3

  • Combined simultaneous expression of Nurr1 and Pitx3 however did not lead to enhancement of tyrosine hydroxylase expression over that of either factor alone in either of the cell lines or with either method [7].

Associations of PITX3 with chemical compounds

  • We show that chronic, but not acute or subchronic, cocaine administration downregulates Nurr1 and Pitx3 transcripts whereas En1 transcripts are upregulated [8].

Other interactions of PITX3

  • These include two genes, CRYAB and PITX3, on chromosomes 11q and 10q respectively, and three loci with as yet unknown genes on chromosomes 1p, 16q and 20p [9].
  • It is essential for the survival of these neurons, and it regulates the expression of another transcription factor, Pitx3, an activator of tyrosine hydroxylase [10].

Analytical, diagnostic and therapeutic context of PITX3

  • We mapped the human PITX3 gene to 10q25 using a radiation-hybrid panel [11].
  • The PITX3 gene was investigated through direct sequencing and detection of fluorescently labeled PCR products [4].


  1. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Semina, E.V., Murray, J.C., Reiter, R., Hrstka, R.F., Graw, J. Hum. Mol. Genet. (2000) [Pubmed]
  2. Overexpression of pitx3 upregulates expression of BDNF and GDNF in SH-SY5Y cells and primary ventral mesencephalic cultures. Peng, C., Fan, S., Li, X., Fan, X., Ming, M., Sun, Z., Le, W. FEBS Lett. (2007) [Pubmed]
  3. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Bidinost, C., Matsumoto, M., Chung, D., Salem, N., Zhang, K., Stockton, D.W., Khoury, A., Megarbane, A., Bejjani, B.A., Traboulsi, E.I. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  4. The PITX3 gene in posterior polar congenital cataract in Australia. Burdon, K.P., McKay, J.D., Wirth, M.G., Russell-Eggit, I.M., Bhatti, S., Ruddle, J.B., Dimasi, D., Mackey, D.A., Craig, J.E. Mol. Vis. (2006) [Pubmed]
  5. Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. Addison, P.K., Berry, V., Ionides, A.C., Francis, P.J., Bhattacharya, S.S., Moore, A.T. The British journal of ophthalmology. (2005) [Pubmed]
  6. Zebrafish pitx3 is necessary for normal lens and retinal development. Shi, X., Bosenko, D.V., Zinkevich, N.S., Foley, S., Hyde, D.R., Semina, E.V., Vihtelic, T.S. Mech. Dev. (2005) [Pubmed]
  7. Induction of tyrosine hydroxylase expression by the transcription factor Pitx3. Messmer, K., Remington, M.P., Skidmore, F., Fishman, P.S. Int. J. Dev. Neurosci. (2007) [Pubmed]
  8. Chronic cocaine administration modulates the expression of transcription factors involved in midbrain dopaminergic neuron function. Leo, D., di Porzio, U., Racagni, G., Riva, M.A., Fumagalli, F., Perrone-Capano, C. Exp. Neurol. (2007) [Pubmed]
  9. A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23. Pras, E., Mahler, O., Kumar, V., Frydman, M., Gefen, N., Pras, E., Hejtmancik, J.F. J. Med. Genet. (2006) [Pubmed]
  10. Midbrain dopaminergic neurons: determination of their developmental fate by transcription factors. Simon, H.H., Bhatt, L., Gherbassi, D., Sgadó, P., Alberí, L. Ann. N. Y. Acad. Sci. (2003) [Pubmed]
  11. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Semina, E.V., Ferrell, R.E., Mintz-Hittner, H.A., Bitoun, P., Alward, W.L., Reiter, R.S., Funkhauser, C., Daack-Hirsch, S., Murray, J.C. Nat. Genet. (1998) [Pubmed]
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