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基因注释:LHFPL1

官方信息

官方名称:LHFPL tetraspan subfamily member 1

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 one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].

作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • U2af1 综合评分: 0.150 · 证据 1 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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