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Gene Review

CASQ1  -  calsequestrin 1 (fast-twitch, skeletal...

Homo sapiens

Synonyms: CASQ, Calmitine, Calsequestrin, skeletal muscle isoform, Calsequestrin-1, PDIB1
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Disease relevance of CASQ1


High impact information on CASQ1

  • Our findings indicate that RCE orthologs have conserved substrate specificity, cleaving CVIA, CTLM, and certain other CAAX motifs, but not the CASQ motif, when these motifs are placed in the context of the yeast a-factor precursor [2].
  • Our findings suggest that noncoding SNPs in CASQ1 alter diabetes susceptibility, either by a direct effect on CASQ1 gene expression or perhaps by regulating a nearby gene such as PEA15 [3].
  • Ten informative SNPs within CASQ1 were genotyped in Amish subjects with type 2 diabetes (n = 145), impaired glucose tolerance (n = 148), and normal glucose tolerance (n = 358) [4].
  • Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish [4].
  • We screened all 11 exons, exon-intron junctions, and the proximal regulatory region of CASQ1 for mutations [4].

Biological context of CASQ1

  • We identified two SNPs that showed strong associations, and both mapped to within intron 2 of the calsequestrin 1 (CASQ1) gene [3].
  • 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 [4].


  1. Exercise-induced ventricular arrhythmias in patients with no structural cardiac disease. Scheinman, M.M., Lam, J. Annu. Rev. Med. (2006) [Pubmed]
  2. Mutational analysis of the ras converting enzyme reveals a requirement for glutamate and histidine residues. Plummer, L.J., Hildebrandt, E.R., Porter, S.B., Rogers, V.A., McCracken, J., Schmidt, W.K. J. Biol. Chem. (2006) [Pubmed]
  3. Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians. Das, S.K., Chu, W., Zhang, Z., Hasstedt, S.J., Elbein, S.C. Diabetes (2004) [Pubmed]
  4. Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish. Fu, M., Damcott, C.M., Sabra, M., Pollin, T.I., Ott, S.H., Wang, J., Garant, M.J., O'Connell, J.R., Mitchell, B.D., Shuldiner, A.R. Diabetes (2004) [Pubmed]
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