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Article

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.

Scientific reports - 20 Sept 2016

Minegishi Yuriko, Sheng XunLun, Yoshitake Kazutoshi, Sergeev Yuri, Iejima Daisuke, Shibagaki Yoshio, Monma Norikazu, Ikeo Kazuho, Furuno Masaaki, Zhuang Wenjun, Liu Yani, Rong Weining, Hattori Seisuke, Iwata Takeshi

Abstract excerpt

Leber congenital amaurosis (LCA) is a hereditary early-onset retinal dystrophy that is accompanied by severe macular degeneration. In this study, novel compound heterozygous mutations were identified as LCA-causative in chaperonin-containing TCP-1, subunit 2 (CCT2), a gene that encodes the molecular chaperone protein, CCTβ. The zebrafish mutants of CCTβ are known to exhibit the eye phenotype while its mutation...

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Identifiers

PMID: 27645772
DOI: 10.1038/srep33742
PMCID: PMC5028737

Genes

CCT2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.PMID 27645772Read ↗

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