4lnx

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Template:STRUCTURE 4lnx

Contents

Crystal structure of TR-alpha bound to T4 in a second site

Template:ABSTRACT PUBMED 24552590

Disease

[THA_HUMAN] Defects in THRA are the cause of congenital hypothyroidism non-goitrous type 6 (CHNG6) [MIM:614450]. A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance.[1]

Function

[THA_HUMAN] Nuclear hormone receptor. High affinity receptor for triiodothyronine.

About this Structure

4lnx is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA.

Reference

  • Souza PC, Puhl AC, Martinez L, Aparicio R, Nascimento AS, Figueira AC, Nguyen P, Webb P, Skaf MS, Polikarpov I. Identification of a NEW HORMONE binding site ON THE SURFACE of thyroid hormone receptor. Mol Endocrinol. 2014 Feb 19:me20131359. PMID:24552590 doi:http://dx.doi.org/10.1210/me.2013-1359
  1. ↑ Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K. A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012 Jan 19;366(3):243-9. doi: 10.1056/NEJMoa1110296. Epub 2011 Dec, 14. PMID:22168587 doi:10.1056/NEJMoa1110296

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