G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
Bioinformatics
; 22(18): 2189-91, 2006 Sep 15.
Article
em En
| MEDLINE
| ID: mdl-16632497
ABSTRACT
UNLABELLED 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. CONTACT liangsp@hunnu.edu.cn
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Receptores de Superfície Celular
/
Análise de Sequência de Proteína
/
Perda Auditiva Neurossensorial
/
Doenças Renais Policísticas
/
Proteínas de Membrana
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Animals
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article