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A Homozygous Mutation (c.241G > A, p.A81T) in the Calsequestrin-2 Causes Eye Defects in Zebrafish.

Biochemical genetics - 1 Aug 2026

Shen Zhu-Xia, Xia Pan-Pan, Cai Jie-Ling, Gu Hui-Hui, Zhang Yan, Wu Zhuan-Bin, Sun Yu-Min

Abstract excerpt

Variants in several genes have been linked to congenital syndromes involving anophthalmia and microphthalmia; however, the specific genotypes and phenotypes associated with these conditions remain unclear. Calsequestrin 2 (CASQ2) is highly expressed in rodent extraocular muscles, but its role in eye development is unclear. In a previous study, we identified a novel CASQ2 (c.241G > A, p.A81T) mutation, which...

Topics

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Calsequestrin
Eye Abnormalities
Gene Expression Regulation, Developmental
Homozygote
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Wnt Signaling Pathway

Zebrafish Proteins

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Identifiers

PMID: 41236688
DOI: 10.1007/s10528-025-11272-3

Genes

CASQ2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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