Ask about this productRelated genes to: CRYBA4 Blocking Peptide
- Gene:
- CRYBA4 NIH gene
- Name:
- crystallin beta A4
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 22q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1991-07-25
- Date modifiied:
- 2015-11-12
Related products to: CRYBA4 Blocking Peptide
Related articles to: CRYBA4 Blocking Peptide
- Gene curation is the analysis of clinical and experimental evidence to determine the strength of relationship between specific genes and diseases. Gene curations allow for improved genetic testing analysis and downstream clinical outcomes. Although variants in crystallin genes are believed to cause about half of all non-syndromic inherited pediatric cataracts, formal gene curations have not been performed. Established and publicly available ClinGen protocols were utilized to perform curations for thirteen crystallin genes to evaluate strength of their associations with pediatric cataracts using published clinical and experimental evidence. Seven genes () scored as Definitively associated with autosomal dominant (AD) inherited pediatric cataracts. Two genes () as Moderate; and four genes have Limited support ( and ). Experimental evidence, when added to clinical evidence, increased the strength of gene-disease relationship for five genes ( from Limited to Definitive, from Moderate to Definitive, CRYGA and from Limited to Moderate and from No Known Disease Relationship (given absence of clinical evidence) to Limited). Optimization and clarification of these gene-disease relationships will improve harmonization of genetic test options (i.e., inclusion on cataract gene panels) and variant interpretation, ultimately allowing for improved clinical care. - Source: PubMed
Publication date: 2026/05/06
Ing AlexanderWeisman Allison GoetschDrackley AndyMcMullen PatrickSkol AndrewLewis FrankEvans BradyYap Kai LeeRathbun PamelaGordon AdamRalay Ranaivo HantaBohnsack Brenda LRossen Jennifer Landau - Mutations in the crystallin beta A4 (CRYBA4) gene, which encodes βA4-crystallin, are associated with congenital cataract; yet, the underlying pathogenic mechanisms remain elusive. We systematically investigated four cataract-associated βA4-crystallin mutants (βA4-Y67N, βA4-L69P, βA4-F94S, and βA4-G147V), each representing distinct structural contexts, to assess their effects on structural destabilization and interactions with key crystallins. - Source: PubMed
Lin XiaoshanDeng ShashaLi WenqianVendra Venkata Pulla RaoYang JinyuZhang XulinQin TinfengXu ZhihaoLiu MuziyingHejtmancik J FieldingJin TengchuanWang Qiwei - Imidacloprid (IMI) poses risks to aquatic ecosystems and exhibits visual toxicity to nontarget organisms. However, the underlying mechanism of its visual toxicity has not been fully elucidated. After exposure to IMI at the concentrations 10, 100, and 1000 µg/L for 4 or 21 days, the visual behavior of zebrafish larvae was first suppressed, followed by enhanced locomotor and visual activities as exposure prolonged. The eye development in zebrafish larvae was significantly disrupted. Structurally, the lens area of zebrafish larvae was reduced from 15.63 % to 50.21 % (4 days) and from 37.00 % to 47.22 % (21 days), and the retina exhibited a thickening of the OPL and IPL, along with thinning of the RPE. Genes related to lens structure (e.g., CRYBA4 and CRYBB2) were significantly down-regulated at 4 days (100 and 1000 µg/L) and then up-regulated (10 and 100 µg/L) at 21 days at the mRNA and protein levels (P < 0.05). Furthermore, IMI exposure disrupted the phototransduction and retinol metabolism cascade in zebrafish larvae, which involves the generation of visual signals across three critical stages, namely, light input, photopigment activation, and photoelectric conversion. Generally, the key genes and metabolites associated with these processes (e.g., Rhodopsin, OPN1SW1, GNGT1, REP65A, 11-cis-retinal) were significantly decreased in zebrafish exposed to IMI for 4 days and increased in those exposed for 21 days (P < 0.05). Therefore, the abnormal color perception was observed in exposed zebrafish larvae. This study elucidates the mechanism underlying IMI-induced visual toxicity in zebrafish and provides crucial theoretical insights for assessing the visual toxicity of agrochemicals. - Source: PubMed
Publication date: 2025/12/02
Fu RuiqiangZheng HanfeiGao HanMao LiangangWu ChiZhu LizhenLiu XingangZhang Lan - The impact of genetic variants on high myopia (HM) remains unclear. This study aims to systematically evaluate the relationship between genetic polymorphisms and HM. - Source: PubMed
Publication date: 2026/03/20
Mao BinDong Xing-XuanGong Shi-YiLi Dan-LinFan QiaoPan Chen-Wei - Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, with approximately 8.3-25% being inherited. The aim of this study is to investigate the mutation spectrum and frequency of 9 cataract-associated genes in 19 Chinese families with congenital cataracts. - Source: PubMed
Publication date: 2025/02/25
Sun Hai-SenHuang TengLiu Zhe-XuanXu Yi-TongWang Ya-QiWang Ming-ChengZhang Shen-RongXu Jia-LinZhu Kai-YiHuang Wen-KaiHuang Xiu-FengLi Jin