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基因注释:SLC3A1

官方信息

官方名称:solute carrier family 3 member 1

功能摘要:This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].

作为靶基因的剪接因子
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • Rnps1 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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