2k27

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[[Image:2k27.png|left|200px]]
 
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{{STRUCTURE_2k27| PDB=2k27 | SCENE= }}
{{STRUCTURE_2k27| PDB=2k27 | SCENE= }}
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===Solution structure of Human Pax8 Paired Box Domain===
===Solution structure of Human Pax8 Paired Box Domain===
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{{ABSTRACT_PUBMED_18829450}}
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{{ABSTRACT_PUBMED_18829450}}
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==Disease==
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[[http://www.uniprot.org/uniprot/PAX8_HUMAN PAX8_HUMAN]] Defects in PAX8 are the cause of congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:[http://omim.org/entry/218700 218700]]. CHNG2 is a disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.<ref>PMID:9590296</ref><ref>PMID:11232006</ref><ref>PMID:11502839</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/PAX8_HUMAN PAX8_HUMAN]] Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:018829450</ref><references group="xtra"/>
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<ref group="xtra">PMID:018829450</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Boelens, R.]]
[[Category: Boelens, R.]]

Revision as of 22:47, 24 March 2013

Template:STRUCTURE 2k27

Contents

Solution structure of Human Pax8 Paired Box Domain

Template:ABSTRACT PUBMED 18829450

Disease

[PAX8_HUMAN] Defects in PAX8 are the cause of congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]. CHNG2 is a disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.[1][2][3]

Function

[PAX8_HUMAN] Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

About this Structure

2k27 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  • Codutti L, van Ingen H, Vascotto C, Fogolari F, Corazza A, Tell G, Quadrifoglio F, Viglino P, Boelens R, Esposito G. The solution structure of DNA-free Pax-8 paired box domain accounts for redox regulation of transcriptional activity in the pax protein family. J Biol Chem. 2008 Nov 28;283(48):33321-8. Epub 2008 Sep 30. PMID:18829450 doi:10.1074/jbc.M805717200
  1. ↑ Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May;19(1):83-6. PMID:9590296 doi:10.1038/ng0598-83
  2. ↑ Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab. 2001 Jan;86(1):234-8. PMID:11232006
  3. ↑ Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab. 2001 Aug;86(8):3962-7. PMID:11502839

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