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基因注释:SLC6A2

官方信息

官方名称:solute carrier family 6 member 2

功能摘要:This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].

作为靶基因的剪接因子
  • FUS 综合评分: 0.300 · 证据 1 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Tardbp 综合评分: 0.212 · 证据 1 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • RBM20 综合评分: 0.100 · 证据 2 条
关联疾病

该基因暂无关联疾病记录

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