Ciliopathy: Sjögren-Larsson Syndrome

Stephen H Tsang; Alicia R P Aycinena; Tarun Sharma

doi:10.1007/978-3-031-72230-1_36

Ciliopathy: Sjögren-Larsson Syndrome

Adv Exp Med Biol. 2025:1467:195-196. doi: 10.1007/978-3-031-72230-1_36.

Authors

Stephen H Tsang¹, Alicia R P Aycinena², Tarun Sharma³

Affiliations

¹ Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.
² Kaiser Permanente, San Francisco, CA, USA.
³ Department of Ophthalmology, Columbia University, New York, NY, USA.

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

Abstract

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.

Keywords: Ciliopathy; Sjögren-Larsson syndrome.

MeSH terms

Aldehyde Oxidoreductases* / genetics
Aldehyde Oxidoreductases* / metabolism
Animals
Cilia* / pathology
Ciliopathies* / genetics
Ciliopathies* / pathology
Humans
Mutation
Sjogren-Larsson Syndrome* / enzymology
Sjogren-Larsson Syndrome* / genetics
Sjogren-Larsson Syndrome* / metabolism
Sjogren-Larsson Syndrome* / pathology

Substances

Aldehyde Oxidoreductases
long-chain-aldehyde dehydrogenase