GENETIC ENCYCLOPEDIA
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gene: S100A6

id6277
symbolS100A6
organismHomo sapiens
full nameS100 calcium binding protein A6
summaryThe protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 1q21.3(chr1:153493800-153508996)x1 AND not provided

GRCh37/hg19 1q21.3(chr1:153488723-153750339)x3 AND not provided

GRCh37/hg19 1q21.3(chr1:153412418-153604246)x3 AND Ductal breast carcinoma

GRCh37/hg19 1q21.3(chr1:153321482-153835605)x3 AND not provided

GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 AND not provided

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