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Bioinformatics Advance Access originally published online on April 21, 2006
Bioinformatics 2006 22(18):2189-2191; doi:10.1093/bioinformatics/btl123
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© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss

Quan-yuan He 1, Xiang-hua Liu 2, Qiang Li 2, David J. Studholme 3, Xuan-wen Li 1 and Song-ping Liang 1,*

1 Key Laboratory of Protein Chemistry and Developmental Biology of Education Committee, College of Life Sciences, Hunan Normal University Changsha, People's Republic of China
2 State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University Handan Road 220, Shanghai 200433, People's Republic of China
3 The Sainsbury Laboratory Norwich NR4 7UH, UK

*To whom correspondence should be addressed.

Summary: We report a novel protein domain—G8—which contains five repeated ß-strand pairs and is present in some disease-related proteins such as PKHD1, KIAA1199, TMEM2 as well as other uncharacterized proteins. Most G8-containing proteins are predicted to be membrane-integral or secreted. The G8 domain may be involved in extracellular ligand binding and catalysis. It has been reported that mis-sense mutations in the two G8 domains of human PKHD1 protein resulted in a less stable protein and are associated with autosomal-recessive polycystic kidney disease, indicating the importance of the domain structure. G8 is also present in the N-terminus of some non-syndromic hearing loss disease-related proteins such as KIAA1109 and TMEM2. Discovery of G8 domain will be important for the research of the structure/function of related proteins and beneficial for the development of novel therapeutics.

Contact: liangsp{at}hunnu.edu.cn

Received on September 20, 2004; revised on January 7, 2005; accepted on January 18, 2005

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