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Sjögren-Larsson syndrome is caused by a mutation in the ALDH3A2 gene, which produces fatty aldehyde dehydrogenase (FALDH). FALDH is a membrane-bound protein involved in fatty oxidation. Structural disturbance and poor metabolite clearance likely contribute to pathogenesis.

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Ciliopathy: Sjögren-Larsson Syndrome

  • 章节

  • 发表日期：

    2025年

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  • Stephen H. Tsang,
  • Alicia R. P. Aycinena,
  • Tarun Sharma

摘要

Sjögren-Larsson syndrome is caused by a mutation in the ALDH3A2 gene, which produces fatty aldehyde dehydrogenase (FALDH). FALDH is a membrane-bound protein involved in fatty oxidation. Structural disturbance and poor metabolite clearance likely contribute to pathogenesis.