3dwb | pdb_00003dwb
From Proteopedia
structure of human ECE-1 complexed with phosphoramidon
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Structural highlights
DiseaseECE1_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] FunctionECE1_HUMAN Converts big endothelin-1 to endothelin-1.[2] Evolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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This page was last modified 08:24, 20 March 2024.