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基因注释:LHFPL5

官方信息

官方名称:LHFPL tetraspan subfamily member 5

功能摘要:This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008].

作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • Srsf1 综合评分: 0.150 · 证据 1 条
  • U2af2 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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