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基因注释:HNF1B

官方信息

官方名称:HNF1 homeobox B

功能摘要:This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].

作为靶基因的剪接因子
  • HNRNPL 综合评分: 0.300 · 证据 2 条
关联疾病

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