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Sandbox GGC4

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==Pax6 paired domain protein==
==Pax6 paired domain protein==
<StructureSection load='6PAX' size='340' side='right' caption='Caption for this structure' scene='75/752268/Full_protein_dna_hidden_orient/3'>
<StructureSection load='6PAX' size='340' side='right' caption='Caption for this structure' scene='75/752268/Full_protein_dna_hidden_orient/3'>
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Pax6 is a transcription factor necessary for the development of the eye, parts of the central nervous system,and crucial parts of the endocrine system including the pituitary gland, pineal gland, and pancreas <ref>PMID:27771509</ref>.
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The PAX6 protein is a transcription factor necessary for the development of the eye, parts of the central nervous system,and crucial parts of the endocrine system including the pituitary gland, pineal gland, and pancreas <ref>PMID:27771509</ref>.
<ref>PMID:10346815</ref>
<ref>PMID:10346815</ref>
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== Function ==
== Function ==
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== Disease ==
== Disease ==
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Mutations in the ''PAX6'' gene are implicated in several diseases in humans, including congenital aniridia both as a standalone disease and also as a part of WAGR syndrome ('''W'''ilms tumor, '''A'''niridia, '''G'''enitourinary anomalies, and mental '''R'''etardation syndrome<ref>PMID:28321846</ref>
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While the hallmark of aniridia is the patient either lacking an iris or possessing a
== Relevance ==
== Relevance ==

Revision as of 15:03, 6 November 2019

Pax6 paired domain protein

Caption for this structure

Drag the structure with the mouse to rotate

References

  1. ↑ Wang X, Shan X, Gregory-Evans CY. A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):60-67. doi:, 10.1016/j.bbadis.2016.10.018. Epub 2016 Oct 20. PMID:27771509 doi:http://dx.doi.org/10.1016/j.bbadis.2016.10.018
  2. ↑ Xu HE, Rould MA, Xu W, Epstein JA, Maas RL, Pabo CO. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding. Genes Dev. 1999 May 15;13(10):1263-75. PMID:10346815
  3. ↑ Vasilyeva TA, Voskresenskaya AA, Kasmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. PMID:28321846 doi:http://dx.doi.org/10.1111/cge.13019
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