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Article

A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2012

Liu Jie, Hoppman Nicole, O'Connell Jeffrey R, Wang Hong, Streeten Elizabeth A, McLenithan John C, Mitchell Braxton D, Shuldiner Alan R

Abstract excerpt

EIF2AK3 is a type I transmembrane protein that functions as an endoplasmic reticulum (ER) stress sensor to regulate global protein synthesis. Rare mutations in EIF2AK3 cause Wolcott-Rallison syndrome (OMIM 226980), an autosomal recessive disorder characterized by diabetes, epiphyseal dysplasia, osteoporosis, and growth retardation. To investigate the role of common genetic variation in EIF2AK3 as a determinant of...

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PMID: 22028037
DOI: 10.1002/jbmr.549
PMCID: PMC3319695

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