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Article

Ciliopathy: Sjögren-Larsson Syndrome.

Advances in experimental medicine and biology - 1 Jan 2025

Tsang Stephen H, Aycinena Alicia R P, Sharma Tarun

Abstract excerpt

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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Identifiers

PMID: 40736838
DOI: 10.1007/978-3-031-72230-1_36

Genes

ALDH3A2

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