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基因注释:EVX2

官方信息

官方名称:even-skipped homeobox 2

功能摘要:This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009].

作为靶基因的剪接因子
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • CPSF6 综合评分: 0.150 · 证据 2 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

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