CRYG4,CRYGD,Gamma-crystallin 4,Gamma-crystallin D,Gamma-D-crystallin,Homo sapiens,Human
- Known as:
- CRYG4,CRYGD,Gamma-crystallin 4,Gamma-crystallin D,Gamma-D-crystallin,Homo sapiens,Human
- Catalog number:
- EIAAB09368
- Category:
- -
- Supplier:
- EIAab
- Gene target:
- CRYG4 CRYGD Gamma-crystallin 4 Gamma-D-crystallin Homo sapiens Human
Related genes to: CRYG4,CRYGD,Gamma-crystallin 4,Gamma-crystallin D,Gamma-D-crystallin,Homo sapiens,Human
- Gene:
- CRYGD NIH gene
- Name:
- crystallin gamma D
- Previous symbol:
- CRYG4
- Synonyms:
- -
- Chromosome:
- 2q33.3
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2015-11-12
Related products to: CRYG4,CRYGD,Gamma-crystallin 4,Gamma-crystallin D,Gamma-D-crystallin,Homo sapiens,Human
Related articles to: CRYG4,CRYGD,Gamma-crystallin 4,Gamma-crystallin D,Gamma-D-crystallin,Homo sapiens,Human
- A cataract is a loss of the transparency of a normal crystalline lens. Multiple factors, including age as the major risk factor for cataracts, can disturb the transparency of the crystalline lens due to cumulative damage from environmental insults to proteins, particularly crystallins. Lens proteins do not turnover, and crystallins undergo extensive post-translational modifications (PTMs) with age in order to interact with each other and maintain their soluble basis for lens transparency. These PTMs include truncation, oxidation, deamidation, acetylation, phosphorylation, and glycosylation. Cataract formation, apart from protein PTMs, involves protein crosslinking, protein insolubilization, and aggregation. Oxidation is a key feature in age-related cataract formation. Due to the role of genetic and environmental factors, as well as its variable clinical presentation, we consider cataracts to be a multifactorial disease. The preliminary results of our study indicate that proteins implicated in the pathway of a structural constituent of the eye lens (BFSP1, BFSP2, CRYAA, CRYAB, CRYBA, CRYBB, CRYGC, CRYGD, CRYGS, KRTs, and VIM), together with AQP1 and AQP5, may also be involved in lens aging. - Source: PubMed
Publication date: 2024/03/23
Karakosta ChristinaSamiotaki MartinaPanayotou GeorgePapaconstantinou Dimitrios SMoschos Marilita M - Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts. Although previous studies had shown that mutations in the γD-crystallin (CRYGD) can result in congenital coralliform cataracts, no conclusive genotype-phenotype correlation might be drawn. Here we aimed to identify the spectrum and frequency of CRYGD gene mutations in congenital coralliform cataracts of Chinese origin. - Source: PubMed
Publication date: 2023/07/21
Wang Kai-JieWang Jue-XueWang Jin-DaLi MengZhang Jing-ShangMao Ying-YanWan Xiu-Hua - Hereditary cataracts are characterized by significant clinical and genetic heterogeneity, which can pose challenges for early DNA diagnosis. To comprehensively address this problem, it is essential to investigate the epidemiology of the disease, perform population studies to determine the spectrum and frequencies of mutations in the responsible genes, and examine clinical and genetic correlations. Based on modern concepts, non-syndromic hereditary cataracts are predominantly caused by genetic disease forms associated with mutations in crystallin and connexin genes. Therefore, a comprehensive approach to studying hereditary cataracts is necessary for early diagnosis and improved treatment outcomes. The crystallin (, , , and ) and connexin (, ) genes were analyzed in 45 unrelated families from the Volga-Ural Region (VUR) with hereditary congenital cataracts. Pathogenic and probably pathogenic nucleotide variants were identified in ten unrelated families, nine of which had cataracts in an autosomal dominant pattern of inheritance. Two previously undescribed likely pathogenic missense variants were identified in the gene: c.253C > T (p.L85F) in one family and c.291C > G (p.H97Q) in two families. The known mutation c.272_274delGAG (p.G91del) was found in the gene in one family, while no pathogenic variants were found in the , , or genes in the examined patients. In the gene, the known mutation c.68G > C (p.R23T) was found in two families, and previously undescribed variants were identified in two other families: a c.133_142del deletion (p.W45Sfs*72) and a missense variant, c.179G > A (p.G60D). In one patient with a recessive form of cataract, two compound-heterozygous variants were identified-a previously undescribed likely pathogenic missense variant, c.143A > G (p.E48G), and a known variant with uncertain pathogenetic significance, c.741T > G (p.I24M). Additionally, a previously undescribed deletion, c.del1126_1139 (p.D376Qfs*69), was identified in the gene in one family. In all families where mutations were identified, cataracts were diagnosed either immediately after birth or during the first year of life. The clinical presentation of the cataracts varied depending on the type of lens opacity, resulting in various clinical forms. This information emphasizes the importance of early diagnosis and genetic testing for hereditary congenital cataracts to guide appropriate management and improve outcomes. - Source: PubMed
Publication date: 2023/06/15
Khidiyatova IrinaKhidiyatova IndiraZinchenko RenaMarakhonov AndreyKarunas AlexandraAvkhadeeva SvetlanaAznzbaev MaratKhusnutdinova Elza - To identify the mutational spectrum in a Chinese cohort with congenital cataracts. - Source: PubMed
Publication date: 2023/06/20
Liu Hong-LiZhang Dao-WeiHu Fang-YuanXu PingZhang Sheng-HaiWu Ji-Hong - Altered circulating hormone and metabolite levels have been reported during and post-COVID-19. Yet, studies of gene expression at the tissue level capable of identifying the causes of endocrine dysfunctions are lacking. Transcript levels of endocrine-specific genes were analyzed in five endocrine organs of lethal COVID-19 cases. Overall, 116 autoptic specimens from 77 individuals (50 COVID-19 cases and 27 uninfected controls) were included. Samples were tested for the SARS-CoV-2 genome. The adrenals, pancreas, ovary, thyroid, and white adipose tissue (WAT) were investigated. Transcript levels of 42 endocrine-specific and 3 interferon-stimulated genes (ISGs) were measured and compared between COVID-19 cases (virus-positive and virus-negative in each tissue) and uninfected controls. ISG transcript levels were enhanced in SARS-CoV-2-positive tissues. Endocrine-specific genes (e.g., HSD3B2, INS, IAPP, TSHR, FOXE1, LEP, and CRYGD) were deregulated in COVID-19 cases in an organ-specific manner. Transcription of organ-specific genes was suppressed in virus-positive specimens of the ovary, pancreas, and thyroid but enhanced in the adrenals. In WAT of COVID-19 cases, transcription of ISGs and leptin was enhanced independently of virus detection in tissue. Though vaccination and prior infection have a protective role against acute and long-term effects of COVID-19, clinicians must be aware that endocrine manifestations can derive from virus-induced and/or stress-induced transcriptional changes of individual endocrine genes. KEY MESSAGES: • SARS-CoV-2 can infect adipose tissue, adrenals, ovary, pancreas and thyroid. • Infection of endocrine organs induces interferon response. • Interferon response is observed in adipose tissue independently of virus presence. • Endocrine-specific genes are deregulated in an organ-specific manner in COVID-19. • Transcription of crucial genes such as INS, TSHR and LEP is altered in COVID-19. - Source: PubMed
Publication date: 2023/05/29
Poma Anello MarcelloBonuccelli DianaMacerola ElisabettaNiballi SaraBasolo AlessioSantini FerruccioBasolo FulvioToniolo Antonio