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

He Q.Y., Liu X.H., Li Q., Studholme D.J., Li X.W., Liang S.P.

We report a novel protein domain-G8-which contains five repeated beta-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.liangsp@hunnu.edu.cn

Bioinformatics 22:2189-2191(2006) [PubMed] [Europe PMC]

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