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基因注释:HSD17B3

官方信息

官方名称:hydroxysteroid 17-beta dehydrogenase 3

功能摘要:This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008].

作为靶基因的剪接因子
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • Ptbp2 综合评分: 0.200 · 证据 1 条
  • ACIN1 综合评分: 0.150 · 证据 2 条
  • Rbpms 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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