The causal mutation in ARR3 gene for high myopia and progressive color vision defect

The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age

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Bibliographische Detailangaben
Veröffentlicht in:	Scientific reports 2023-06, Vol.13 (1), p.8986-8986, Article 8986
Hauptverfasser:	Gu, Lei, Cong, Peikuan, Ning, Qingyao, Jiang, Bo, Wang, Jianyong, Cui, Hongguang
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489 692/420/2489 Arrestin Arrestin - genetics Child Color Vision Color Vision Defects - genetics Cones Female Females Gene loci Genetic testing Genomes Hospitals Humanities and Social Sciences Humans Male multidisciplinary Mutation Myopia Myopia - genetics Opsins Proteins Retinal Cone Photoreceptor Cells Science Science (multidisciplinary) Software
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Beschreibung
Zusammenfassung:	The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-023-36141-0