Article
Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish.
Diabetes - 1 Dec 2004
Fu Mao, Damcott Coleen M, Sabra Mona, Pollin Toni I, Ott Sandra H, Wang Jian, Garant Michael J, O'Connell Jeffrey R, Mitchell Braxton D, Shuldiner Alan R
Abstract excerpt
Calsequestrin (CASQ)1 is involved in intracellular storage and release of calcium, a process that has been shown to mediate glucose transport in muscle. Its gene, CASQ1, is encoded on chromosome 1q21, a region that has been linked to type 2 diabetes in the Amish and several other populations. We screened all 11 exons, exon-intron junctions, and the proximal regulatory region of CASQ1 for mutations. We detected...
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