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Article

Fundus albipunctatus disease-associated RDH5/L310delinsEV mutation undertakes AMFR-mediated polyubiquitination and degradation in proteasome.

Experimental eye research - 1 May 2026

Dong Yichen, Xue Rong, Zhang Yi, Jia Xiaolin, Jiang Mingjun, Xue Mengjiao, Peng Xuyan, Wan Guangming, Hu Yanzhong

Abstract excerpt

Genetic mutations in retinol dehydrogenase 5 (RDH5) are associated with the inherited autosomal recessive retinal degeneration diseases, especially fundus albipunctatus (FA). Most of RDH5 mutants exhibit downregulation of RDH5 protein expression. However, the regulatory mechanism remains unclear. Here, we studied the metabolism of RDH5/L310delinsEV mutation, an indel mutation closely associated with the inherited...

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Identifiers

PMID: 41679585
DOI: 10.1016/j.exer.2026.110927

Genes

RDH5
AMFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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