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基因注释:DRD2

官方信息

官方名称:dopamine receptor D2

功能摘要:This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008].

作为靶基因的剪接因子
  • Nova2 综合评分: 0.200 · 证据 1 条
  • MSI1 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • Srsf7 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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