3dwb

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Template:STRUCTURE 3dwb

Contents

structure of human ECE-1 complexed with phosphoramidon

Template:ABSTRACT PUBMED 18992253

Disease

[ECE1_HUMAN] Defects in ECE1 are a cause of Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [MIM:613870]. It is a form of Hirschsprung disease with skip-lesions defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction.[1]

Function

[ECE1_HUMAN] Converts big endothelin-1 to endothelin-1.[2]

About this Structure

3dwb is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Schulz H, Dale GE, Karimi-Nejad Y, Oefner C. Structure of human endothelin-converting enzyme I complexed with phosphoramidon. J Mol Biol. 2009 Jan 9;385(1):178-87. Epub 2008 Nov 1. PMID:18992253 doi:10.1016/j.jmb.2008.10.052
  1. ↑ Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet. 1999 Jan;64(1):304-8. PMID:9915973 doi:10.1086/302184
  2. ↑ Schweizer A, Valdenaire O, Nelbock P, Deuschle U, Dumas Milne Edwards JB, Stumpf JG, Loffler BM. Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations. Biochem J. 1997 Dec 15;328 ( Pt 3):871-7. PMID:9396733

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