Ask about this productRelated genes to: GYG1 antibody
- Gene:
- GYG1 NIH gene
- Name:
- glycogenin 1
- Previous symbol:
- GYG
- Synonyms:
- -
- Chromosome:
- 3q24
- Locus Type:
- gene with protein product
- Date approved:
- 1997-07-22
- Date modifiied:
- 2016-10-05
Related products to: GYG1 antibody
Related articles to: GYG1 antibody
- Polyglucosan body myopathy type 2 (PGBM2; OMIM #616199) is an autosomal recessive myopathy caused by biallelic variants in GYG1, which encodes glycogenin-1. It is characterized by progressive muscle weakness and PAS-positive, diastase-resistant polyglucosan inclusions on muscle biopsy. We report a 64-year-old woman who developed progressive proximal weakness beginning in her early 50s, with polyglucosan bodies identified on muscle histopathology. Genome sequencing (GS) detected a single heterozygous pathogenic splice-site variant, NM_004130.4(GYG1):c.143+3G>C. Given strong histopathologic evidence of PGBM2, GS data were reanalyzed, revealing an additional rare deep intronic variant, NM_004130.4(GYG1):c.7+992T>G, predicted to activate a cryptic exon. RNA sequencing (RNA-seq) confirmed aberrant splicing from both variants, demonstrating exon 2 skipping associated with c.143+3G>C and cryptic exon inclusion caused by c.7+992T>G. Variant phasing posed a diagnostic challenge due to unavailable parental DNA, and long-range PCR results were inconclusive. Long-read GS definitively demonstrated that the two variants were in trans, establishing compound heterozygosity and confirming the molecular diagnosis. These findings enabled reclassification of the deep intronic variant as likely pathogenic. This case highlights the diagnostic limitations of conventional phasing approaches in adult-onset recessive disorders and demonstrates the clinical utility of integrating genome reanalysis, RNA-seq, and long-read GS for resolving complex phasing challenges. - Source: PubMed
Publication date: 2026/04/23
Panwar DeepakFarris Joseph DSchmidt DanielleBlake Emily JTan Jia WNaddaf ElieSonnen JoshuaVairo Filippo Pinto ELambert Laura JWierenga Klaas JMuthusamy KarthikKlee Eric W - 1 (GyG1) can infect a variety of animals and humans, but prevention and control strategies are limited, which endangers the healthy development of the poultry breeding industry and has a potential impact on public health safety. The live poultry market (LPM) connects the production and consumption ends, and the pathogen may spread across regions through transportation and personnel flow. To understand the prevalence of GyG1 in Guangxi, 3482 samples from LPMs, namely, 2693 chicken throat and cloacal swabs and 789 environmental samples collected in Guangxi from December 2019 to December 2024, were assayed by PCR. The results revealed that GyG1 was present in chicken and environmental samples from LPMs in Guangxi, China, with positivity rates of 17.08% and 13.31%, respectively. Eight GyG1-positive samples were randomly selected, including 5 chicken swab samples and 3 environmental samples for whole-genome amplification. The amino acids encoded by the three ORFs were analysed, and some mutation sites unique to these 8 variants were found. The homology between the 8 GyG1 genomes and 36 reference sequences was 96.8-99.8%. The homology of the VP1 gene sequence was 96.5-99.9%, and the homology of the amino acid sequence was 99.4-100%. A phylogenetic tree was constructed on the basis of the 8 GyG1 genomes and 36 GyG1 reference genome sequences from 14 different species (8 from zoos) in this study. The 44 sequences were divided into three branches constituting groups A, B and C, with the 8 novel strains classified into group A2. Recombination analysis predicted that two recombination events in the GyG1 sequence were associated with the emergence of Guangxi strain GX-AGV2-202109-5. This study clarified the prevalence and molecular characteristics of GyG1 in LPMs in Guangxi, China, were clarified for the first time, providing important data supporting the prevention and control of GyG1 infection and providing a reference for further understanding the epidemiology and genetic diversity of GyG1. - Source: PubMed
Publication date: 2026/02/09
Zhang YanfangXie ZhixunXie ZhiqinXie LijiLi MengYan MingWu AiqiongZhang MinxiuFan QingZeng TingtingHuang JiaolingWang ShengWan LijunLi XiaofengWei YouLuo Sisi - The global obesity crisis requires precision biomarkers to overcome treatment resistance. We investigated circulating multi-omics signatures for predicting and monitoring glucagon-like peptide-1 receptor agonist (GLP-1RA) (GZR18) response, addressing gaps in personalized obesity therapy. - Source: PubMed
Publication date: 2026/02/04
Li LijunHou MengyuGao QiannanZhao LiyuanDong Ruihua - Epithelial ovarian cancer (EOC) is the deadliest gynecologic cancer, due to asymptomatic early stages, vague symptoms in later stages, and limited clinical tools. Despite distinct clinicopathologic features, all EOC histotypes typically receive identical primary treatment, and are often studied as a single entity. - Source: PubMed
Publication date: 2026/01/28
Werner LucasIttner EllaSwenson HugoRönnerman Elisabeth WernerMateoiu ClaudiaKovács AnikóDahm-Kähler PernillaKarlsson PerParris Toshima ZHelou Khalil - It has been demonstrated that infants and young children exhibit immune tolerance as a consequence of immature immune systems, which are characterized by a natural Th2 bias. RSV infection has been reported to result in acute lower respiratory infection (ALRI), while formalin-inactivated vaccination has been observed to exacerbate Th2 responses, consequently leading to enhanced respiratory disease (ERD). Transcriptomic data from three independent cohorts of RSV-infected infants were analyzed (GSE246622 served as the discovery and train set; GSE105450 and GSE188427 were used as validation sets). Immune infiltration analysis revealed immunological characteristics, which were then used to perform unsupervised clustering using feature-related genes. WGCNA was used to identify co-expressed gene modules, while Mfuzz and TCseq were employed to analyze temporal expression patterns. Machine learning models were developed using a refined panel of candidate genes. Severe symptoms of RSV infection exhibited a strong correlation with age, with younger infants demonstrating more intense inflammatory responses from neutrophils, macrophages, mast cells and dendritic cells. A predictive model was constructed using ten co-expressed genes: The following genes were identified: MCEMP1, FCGR1B, ANXA3, FAM20A, CYSTM1, GYG1, ARG1, SLPI, BMX and SMPDL3A. It was observed that infants of a younger demographic demonstrated a heightened degree of immunosuppression and pronounced innate immune activation in patients of severe symptoms with RSV infection. However, eosinophils exhibited minimal involvement in these processes. These gene models pertaining to the neutrophil, macrophage or mast cell was found to be a relatively effective predictor in patients of severe symptoms. - Source: PubMed
Publication date: 2025/12/29
Ren KaiSun HonggangRen TianMa KailunChen Jizheng