Ask about this productRelated genes to: Phkg1 Blocking Peptide
- Gene:
- PHKG1 NIH gene
- Name:
- phosphorylase kinase catalytic subunit gamma 1
- Previous symbol:
- PHKG
- Synonyms:
- -
- Chromosome:
- 7p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1989-02-23
- Date modifiied:
- 2016-05-16
Related products to: Phkg1 Blocking Peptide
Related articles to: Phkg1 Blocking Peptide
- Diabetic peripheral neuropathy (DPN) is a common and disabling complication of diabetes for which no disease-modifying therapies are currently available. Glycemic and metabolic drivers do not fully explain why only a subset of individuals with diabetes develop DPN, and underling genetic contributors remain poorly defined. - Source: PubMed
Publication date: 2026/07/10
Fridman VeraKakar AasthaJensen AubreyVan de Vondel LiedeweiWheeler AllisonPhillips Lawrence SZhou JinZuchner StephanReusch JaneRaghavan Sridharan - Skeletal muscle fiber composition plays a critical role in determining muscle growth and meat quality in livestock species. However, the molecular mechanisms underlying muscle fiber-type transformation in meat rabbits remain poorly understood. - Source: PubMed
Publication date: 2026/05/07
Jia ChengQianwen WuZhengwei JiZhongqiang YaoLing WangHongzhao LuWenxian Zeng - The evolutionary conservation of lipid storage mechanisms across metazoans is well illustrated by vertebrate white adipose tissue (WAT) and its functional counterpart, the amphibian fat body. While serving as the principal lipid reservoir, the amphibian fat body is connected to the gonads and demonstrates unique endocrine-reproductive integration, particularly through its bidirectional regulation of gonadal function and energy metabolism. However, our understanding of this organ's cellular heterogeneity and sex-specific functional adaptations is still limited. - Source: PubMed
Publication date: 2025/11/11
Zhang YiminYang XinyueWang TonghangZhao RuinanZhu YanjunHou YinmengChen ZhuoChen Xiaohong - Glycogen storage disease type 0b (GSD 0b) is an exceptionally rare metabolic disorder caused by biallelic pathogenic variants in the GYS1 gene, leading to deficient glycogen synthase (GS) activity. In 2022, two cases were reported for the first time with a phenotype presenting as adult-onset myopathy. - Source: PubMed
Publication date: 2025/05/18
Llauradó APinós TCodina-Solà MMartínez-Saez ERestrepo-Vera J LSalvadó MSanchez-Tejerina DSotoca JMuñoz PRovira-Moreno EBüyükdereli LeylaGarcia-Arumi EVidal-Taboada J MOvelleiro DJuntas-Morales R - Understanding the genetic regulation of gene expression and splicing in muscle tissues is critical for elucidating the molecular mechanisms of meat quality traits. In this study, we integrated large-scale whole-genome sequencing and strand-specific RNA-seq data from 582 F2 hybrid pigs (White Duroc × Erhualian) to characterize the expression and splicing quantitative trait loci (eQTLs/sQTL) in muscle. We identified 11,058 cis-eQTL-associated genes (eGenes) and 5139 cis-sQTL-associated genes (sGenes), of which 29% of eGenes and 80% of sGenes were previously unreported in the PigGTEx database. Functional analyses revealed distinct genomic features: eQTLs were enriched near transcription start sites (TSSs) and associated with active TSS-proximal transcribed regions and enhancers, whereas sQTLs clustered at splice junctions, underscoring their distinct roles in gene expression and splicing regulation. Colocalization analysis of e/sQTLs with GWAS signals prioritized as a key candidate gene (PPH4 > 0.9) for glycogen metabolism. Notably, we confirmed that an sQTL-driven alternative splicing event in exon 10 of was significantly correlated with phenotypic variation ( = -0.39, = 9.5 × 10). Collectively, this study provides novel insights into the genetic regulation of gene expression and alternative splicing in porcine muscle tissue, advancing our understanding of the molecular mechanisms underlying economically important meat quality traits. - Source: PubMed
Publication date: 2025/04/24
Zhou MengLing ChenjinXiao HuiZhang Zhiyan