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基因注释:KLHL41

官方信息

官方名称:kelch like family member 41

功能摘要:This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015].

作为靶基因的剪接因子
  • Tardbp 综合评分: 0.324 · 证据 1 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • CSTF2T 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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