1xmj

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Template:STRUCTURE 1xmj

Contents

Crystal structure of human deltaF508 human NBD1 domain with ATP

Template:ABSTRACT PUBMED 15528182

Disease

Known disease associated with this structure: Congenital bilateral absence of vas deferens OMIM:[602421], Cystic fibrosis OMIM:[602421], Sweat chloride elevation without CF OMIM:[602421], Hypertrypsinemia, neonatal OMIM:[602421], Pancreatitis, idiopathic OMIM:[602421]

About this Structure

1XMJ is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure., Lewis HA, Zhao X, Wang C, Sauder JM, Rooney I, Noland BW, Lorimer D, Kearins MC, Conners K, Condon B, Maloney PC, Guggino WB, Hunt JF, Emtage S, J Biol Chem. 2005 Jan 14;280(2):1346-53. Epub 2004 Nov 3. PMID:15528182

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