Ask about this productRelated genes to: PGM2L1 antibody
- Gene:
- PGM2L1 NIH gene
- Name:
- phosphoglucomutase 2 like 1
- Previous symbol:
- -
- Synonyms:
- FLJ32029, BM32A
- Chromosome:
- 11q13.4
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-20
- Date modifiied:
- 2016-10-05
Related products to: PGM2L1 antibody
Related articles to: PGM2L1 antibody
- Calf health is becoming an increasingly important consideration for genetic selection in modern dairy cattle. However, the impact of calf diseases on other economically important traits and the genetic architecture underlying these traits remain poorly understood. This study aimed to (1) determine the impact of including calf disease traits into Canadian national genetic evaluation by estimating genetic and phenotypic correlations with other economically important traits, and (2) conduct a genome-wide association study and functional analysis to identify and understand genomic regions associated with calf disease traits in Holstein breed. The majority of genetic correlation estimates between calf diseases and other economically important traits were close to zero. However, notable correlations were found between respiratory problems and both fertility traits and clinical mastitis, which showed a favorable relationship. Similarly, estimated phenotypic correlations were generally small, suggesting limited phenotypic impact of calf disease on later life performance. These results highlight the importance of including calf disease traits within national evaluations to ensure improvements can be made on the genetic level. From the genome-wide association study, 17 single nucleotide polymorphisms (SNP) across 5 chromosomes were significantly associated with diarrhea, and 20 SNP across 5 chromosomes were significantly associated with respiratory problems. The enrichment analysis revealed 7 candidate genes that were co-localized with the SNP significantly associated with diarrhea (ACER3, CAPN5, ILK, LIPT2, PGM2L1, and PPME1). For respiratory problems, the enrichment analysis revealed 4 candidate genes that were co-localized with the significant SNP (SYNPO, DCTN4, ANXA6, and MYOZ3). Several potential candidate genes were identified, although further work is required to determine the exact association between identified genes and calf disease traits. - Source: PubMed
Publication date: 2026/04/03
Lynch CMakanjuola B OSchenkel F SMiglior FKelton DBaes C F - PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical symptoms. This study aims to report the clinical features and genetic findings in a male patient with developmental delay, regression, and seizures. - Source: PubMed
Niu MengmengWang DongJia Shanshan - PGM2L1 is a crucial enzyme exhibiting glucose 1,6-bisphosphate synthase activity, with predominant expression in brain tissue. In 2021, biallelic pathogenic variants in the PGM2L1 gene were first linked to a neurodevelopmental disorder characterized primarily by developmental delay in four pediatric cases. In this study, we aimed to delineate the adult phenotype associated with the PGM2L1-related neurodevelopmental disorder and to perform functional characterization of the identified variant. Two siblings presenting with neurodevelopmental delay were evaluated clinically and genetically. Exome sequencing of the older sibling revealed a homozygous nonsense variant, c.277C>T p.(Gln73Ter), in the PGM2L1 gene. This variant results in truncation leading to loss of key functional domains including the substrate binding site, catalytic active site, and protein stability regions. Quantitative analysis demonstrated a significant reduction in PGM2L1 gene expression in both siblings compared to controls (p value < 0.01). Unlike previously reported pediatric cases, the second sibling exhibited additional features including scoliosis, renal anomaly, tooth loss, hypothyroidism, bladder trabeculation, anhidrosis, and temperature intolerance, notably in the absence of obesity. These cases represent the first detailed description of an adult phenotype associated with a biallelic pathogenic variant in PGM2L1, expanding the clinical spectrum of this neurodevelopmental disorder. - Source: PubMed
Publication date: 2025/11/03
Ercoskun PelinAkbulut EkremYavas CuneydYilmaz Celik LaleDogan Mustafa - To investigate the genetic regulatory mechanism of supplementary feeding on muscle development in Oula sheep, we employed transcriptomic analysis to explore the differentially expressed genes (DEGs) in the longissimus dorsi muscle of Oula sheep at different ages under conditions of supplementary feeding and non-supplementary feeding, as well as the significantly enriched Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) signaling pathways of DEGs. Moreover, by combining with the method of weighted gene co-expression network analysis, we screened for the potential hub genes that might play crucial roles. The results demonstrated that the and genes and the PI3K-Akt signaling pathway might exert important functions during the lamb stage. At the growth stage, the , , , , and genes might serve as core genes to regulate the growth of skeletal muscle in Oula sheep after supplementary feeding through signaling pathways such as starch and sucrose metabolism and insulin signaling pathway. This outcome provides a molecular-level interpretation of the regulatory mechanism of supplementary feeding on muscle growth and development in Oula sheep at different ages, offering a theoretical basis for the further improvement of the meat quality of Oula sheep and the enhancement of the quality of livestock products in the Qinghai-Tibet Plateau region. - Source: PubMed
Publication date: 2025/09/08
Li YumengWang YanhaoYan MingyiWu SenLiu MengRaza Sayed Haidar Abbas - Alterations in glycolysis play a crucial role in cancer cells, influencing tumor aggressiveness and therapeutic effect, particularly in pancreatic adenocarcinoma (PAAD). However, the specific glycolysis-related genes involved in PAAD progression remain poorly understood. This study established glycolysis-related molecular subtypes with distinct survival outcomes using TCGA datasets. The favorable prognosis subtype exhibited enhanced immune infiltration and an activated tumor microenvironment. A glycolysis prognostic model effectively predicted PAAD survival, correlating with global glycolytic pathways, and AUCell evaluated neutrophil communication networks of models. Functional validation demonstrated that ENO1/PGM2L1 co-expression promoted tumor proliferation, migration, invasion, and glycolytic flux in vitro, while accelerating xenograft growth in vivo. Conversely, their knockdown suppressed malignancy. Our study demonstrated that the glycolytic prognostic risk model serves as a reliable tool for prognosis and prediction of PAAD progression. ENO1 and PGM2L1 emerge as key risk factors promoting the malignant progression of PAAD. - Source: PubMed
Publication date: 2025/05/26
Wu NanZhou ChongYan XuLiu ZiangJiang RuohanLuo YuzhouJiang PingMu YuXiao ShanHuang XienZhou YunzhenSun DonglinJin Yan