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Mutations in the gene of human type IIb sodium-phosphate cotransporter SLC34A2


Lituiev, D S; Kiyamova, R G (2010). Mutations in the gene of human type IIb sodium-phosphate cotransporter SLC34A2. Biopolymers and Cell = Biopolimery i Kletka, 26(1):13-22.

Abstract

Type IIb sodium-phosphate cotransporter (NaPi2b) provides phosphate intake in the cells of some epithelial tissues, osteoblasts and odontoblasts. Abnormal expression of NaPi2b has been detected in some types of epithelial tumors. An alteration in NaPi2b activity, caused by mutations in transporter gene SLC34A2, has been recently revealed in patients with pulmonary alveolar microlithiasis, an autosomal recessively inherited disease, characterized by deposition of calcium-phosphate precipitates in the lungs. In the present study we have combined the information about all mutations found to date in the coding sequence of SLC34A2 and its transcript, compiled their map, and analysed their relevance to the function of NaPi2b.

Abstract

Type IIb sodium-phosphate cotransporter (NaPi2b) provides phosphate intake in the cells of some epithelial tissues, osteoblasts and odontoblasts. Abnormal expression of NaPi2b has been detected in some types of epithelial tumors. An alteration in NaPi2b activity, caused by mutations in transporter gene SLC34A2, has been recently revealed in patients with pulmonary alveolar microlithiasis, an autosomal recessively inherited disease, characterized by deposition of calcium-phosphate precipitates in the lungs. In the present study we have combined the information about all mutations found to date in the coding sequence of SLC34A2 and its transcript, compiled their map, and analysed their relevance to the function of NaPi2b.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:07 Faculty of Science > Department of Plant and Microbial Biology
07 Faculty of Science > Zurich-Basel Plant Science Center
Dewey Decimal Classification:580 Plants (Botany)
Language:English
Date:2010
Deposited On:17 Feb 2011 20:26
Last Modified:05 Apr 2016 14:41
Publisher:Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine
ISSN:0233-7657
Related URLs:http://www.biopolymers.org.ua/ (Publisher)

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