2k27: Difference between revisions

<table><tr><td colspan='2'>[[2k27]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2K27 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2K27 FirstGlance]. <br>

</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PAX8 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2k27 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k27 OCA], [http://pdbe.org/2k27 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2k27 RCSB], [http://www.ebi.ac.uk/pdbsum/2k27 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2k27 ProSAT]</span></td></tr>

[[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>   

[[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.