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gene: DKK3

id27122
symbolDKK3
organismHomo sapiens
full namedickkopf WNT signaling pathway inhibitor 3
summaryThis gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
variant-disease

NM_001018057.1(DKK3):c.505C>A (p.Gln169Lys) AND Marfanoid habitus and intellectual disability

GRCh37/hg19 11p15.3(chr11:11970971-11986061)x3 AND not provided

GRCh37/hg19 11p15.3(chr11:11461387-12258307)x1 AND not provided

GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 AND See cases

GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) AND Russell-Silver syndrome

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