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Nat Genet. 1993 Dec;5(4):376-80.

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.

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Abteilung für Pädiatrische Genetik, Ludwig-Maximilians-Universität, München, Germany.


The X-lined gene for Norrie disease, which is characterized by blindness, deafness and mental retardation has been cloned recently. This gene has been thought to code for a putative extracellular factor; its predicted amino acid sequence is homologous to the C-terminal domain of diverse extracellular proteins. Sequence pattern searches and three-dimensional modelling now suggest that the Norrie disease protein (NDP) has a tertiary structure similar to that of transforming growth factor beta (TGF beta). Our model identifies NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiological role of NDP. The model also sheds light on sequence related domains such as the C-terminal domain of mucins and of von Willebrand factor.

[Indexed for MEDLINE]

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