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Article

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.

European journal of human genetics : EJHG - 1 Nov 2014

Hansen Lars, Comyn Sophie, Mang Yuan, Lind-Thomsen Allan, Myhre Layne, Jean Francesca, Eiberg Hans, Tommerup Niels, Rosenberg Thomas, Pilgrim David

Abstract excerpt

Genome-wide linkage analysis, followed by targeted deep sequencing, in a Danish multigeneration family with juvenile cataract revealed a region of chromosome 17 co-segregating with the disease trait. Affected individuals were heterozygous for two potentially protein-disrupting alleles in this region, in ACACA and UNC45B. As alterations of the UNC45B protein have been shown to affect eye development in model...

Topics

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Acetyl-CoA Carboxylase
Cataract
Chromosomes, Human, Pair 17
HSP90 Heat-Shock Proteins
Lens, Crystalline

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Proteins

Zebrafish Proteins

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Open in PubMed Open full text

Identifiers

PMID: 24549050
DOI: 10.1038/ejhg.2014.21
PMCID: PMC4200433

Genes

ACACA

Variants

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

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The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.PMID 24549050Read ↗

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