Metabolism: PRKAB2, 1-272
- Known as:
- Metabolism: PRKAB2, 1-272
- Catalog number:
- ATGP1817
- Product Quantity:
- 0.5mg
- Category:
- -
- Supplier:
- ATGen
- Gene target:
- Metabolism: PRKAB2 1-272
Related genes to: Metabolism: PRKAB2, 1-272
- Gene:
- ADGRD1 NIH gene
- Name:
- adhesion G protein-coupled receptor D1
- Previous symbol:
- GPR133
- Synonyms:
- DKFZp434B1272, PGR25
- Chromosome:
- 12q24.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-26
- Date modifiied:
- 2015-03-03
- Gene:
- C16orf72 NIH gene
- Name:
- chromosome 16 open reading frame 72
- Previous symbol:
- -
- Synonyms:
- FLJ41272, PRO0149
- Chromosome:
- 16p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-06-14
- Date modifiied:
- 2016-09-30
- Gene:
- KDM5C NIH gene
- Name:
- lysine demethylase 5C
- Previous symbol:
- SMCX, JARID1C, MRX13
- Synonyms:
- DXS1272E, XE169
- Chromosome:
- Xp11.22
- Locus Type:
- gene with protein product
- Date approved:
- 1999-04-23
- Date modifiied:
- 2016-10-05
- Gene:
- MIR1272 NIH gene
- Name:
- microRNA 1272
- Previous symbol:
- MIRN1272
- Synonyms:
- hsa-mir-1272
- Chromosome:
- 15q22.31
- Locus Type:
- RNA, micro
- Date approved:
- 2008-11-03
- Date modifiied:
- 2016-11-16
- Gene:
- PHC3 NIH gene
- Name:
- polyhomeotic homolog 3
- Previous symbol:
- -
- Synonyms:
- EDR3, FLJ12967, FLJ12729, HPH3
- Chromosome:
- 3q26.2
- Locus Type:
- gene with protein product
- Date approved:
- 2002-10-03
- Date modifiied:
- 2016-10-05
Related products to: Metabolism: PRKAB2, 1-272
Related articles to: Metabolism: PRKAB2, 1-272
- Human Immunodeficiency Virus Type 1 (HIV-1) continues to pose a significant global public health challenge. Marked inter-individual variability in susceptibility to infection, viral load, and disease progression has long highlighted an important role for host genetic factors. To date, only a small number of germline loci show consistent, reproducible effects on HIV-1 control, most notably CCR5 and HLA class I genes. Recent studies have refined the mechanistic basis of these associations, clarifying how CCR5 regulation and specific HLA-B residues shape CD8⁺ T-cell and natural killer cell responses. Beyond these loci, emerging population-specific associations, including variants at the CHD1L/PRKAB2 locus, underscore the importance of studying diverse populations and highlight novel pathways influencing viral replication and evolution. In parallel, attention has shifted toward somatic genetic variation and aging-related processes in people living with HIV-1. HIV-1 infection and chronic immune activation are associated with genomic instability, accelerated accumulation of mitochondrial DNA mutations, telomere shortening, and increased prevalence of clonal hematopoiesis, processes that may contribute to inflammation and non-communicable comorbidities despite effective viral suppression. As well, the growing application of polygenic risk scores to predict cardiometabolic and renal disease in treated populations has implications for precision HIV-1 medicine. As universal antiretroviral therapy reduces opportunities to study natural HIV-1 progression, future genetic research will increasingly focus on how host germline and somatic variation influence therapeutic outcomes and viral reservoir dynamics to shape long-term health outcomes and emerging treatment strategies. - Source: PubMed
Publication date: 2026/04/17
Awada AbrahamThorball Christian WTimonina ValeriiaCarrington MaryMcLaren Paul JFellay Jacques - Observational studies show metformin use associated with lower cancer risk, although experimental evidence is inconsistent. To provide genetic validation for repositioning of metformin in cancer prevention, we assessed genetically proxied effects of putative metformin targets on cancer outcomes using a drug-target Mendelian randomization (MR) design. - Source: PubMed
Publication date: 2026/02/27
Shen XingyuLuo ShanZheng JieChui Celine Sze LingWong Ian Chi KeiWan Eric Yuk FaiSchooling Catherine MaryAu Yeung Shiu Lun - Renal cell carcinoma (RCC) is characterized by dysregulated lipid metabolism and a high propensity for developing resistance to targeted therapies. Mitophagy is a key process involved in the progression of various cancers, including RCC. Here, using genome-wide CRISPR screening, we identified PRKAB2 as a crucial tumor suppressor in RCC. Reduced PRKAB2 expression correlated with poor prognosis and aggressive clinical features, whereas overexpression of PRKAB2 markedly inhibited RCC cell proliferation, migration, invasion, tumor growth, and metastasis both and . Mechanistically, PRKAB2 overexpression inhibited mitophagy primarily through two distinct mechanisms. First, PRKAB2 enhanced the binding between LRPPRC and PRKN/parkin, competitively reducing PRKN's interaction with PINK1 and thus suppressing ubiquitin-dependent mitophagy. Second, PRKAB2 promoted AMPK phosphorylation, which in turn suppressed SREBF1/SREBP1-mediated transcriptional activation of , leading to decreased CRLS1 expression and reduced synthesis of cardiolipin, a lipid essential for mitophagy. Importantly, PRKAB2 overexpression significantly restored sensitivity to tyrosine kinase inhibitors (TKIs) in sunitinib-resistant RCC cells. Conversely, forced PRKN expression promoted resistance to these drugs, further implicating mitophagy as a key mechanism underlying TKI resistance. Depmap analysis confirmed the association between increased mitophagy and TKI resistance. Overall, our findings identify PRKAB2 as a critical tumor suppressor in RCC, regulating both protein-protein interactions and lipid metabolism to suppress mitophagy. Targeting PRKAB2-associated pathways may provide a promising therapeutic strategy to enhance treatment efficacy and overcome drug resistance in RCC.: ACACA/ACC1: acetyl-CoA carboxylase alpha; AMPK: AMP-activated protein kinase; ATCC: American Type Culture Collection; ATP5F1A: ATP synthase F1 subunit alpha; BNIP3: BCL2 interacting protein 3; BNIP3L/NIX: BCL2 interacting protein 3 like; BRCA1: BRCA1 DNA repair associated; Cas: CRISPR-associated; CCCP: carbonyl cyanide m-chlorophenyl hydrazone; ccRCC: clear cell renal cell carcinoma; ChIP: chromatin immunoprecipitation; Co-IP: co-immunoprecipitation; COX4I1: cytochrome c oxidase subunit 4I1; CRISPR: clustered regularly interspaced short palindromic repeats; CRLS1: cardiolipin synthase 1; DNM1L/DRP1: dynamin 1 like; DOX: doxorubicin; FUNDC1: FUN14 domain containing 1; HSPA8: heat shock protein family A (Hsp70) member 8; HSPD1: heat shock protein family D (Hsp60) member 1; GO: gene ontology; IHC: immunohistochemistry; IMM: inner mitochondrial membrane; LDLR: low density lipoprotein receptor; m-SREBF1: mature sterol regulatory element binding transcriptional factor 1; LRPPRC: leucine rich pentatricopeptide repeat containing; MAP1LC3B: microtubule associated protein 1 light chain 3 beta; MFN1, mitofusin 1; MFN2: mitofusin 2; MTOR: mechanistic target of rapamycin kinase; OMM: outer mitochondrial membrane; OS: overall survival; PA: phosphatidic acid; PG: phosphatidylglycerol; PGS1: phosphatidylglycerophosphate synthase 1; PINK1: PTEN induced kinase1; PRKAA1/AMPKα1: protein kinase AMP-activated catalytic subunit alpha 1; PRKAA2/AMPKα2: protein kinase AMP-activated catalytic subunit alpha 2; PRKAB1/AMPKβ1: protein kinase AMP-activated catalytic subunit beta 1; PRKAB2/AMPKβ2: protein kinase AMP-activated non-catalytic subunit beta 2; PRKAG1/AMPKγ1: protein kinase AMP-activated non-catalytic subunit gamma 1; PRKN: parkin RBR E3 ubiquitin protein ligase; RCC: renal cell carcinoma; SASA: solvent-accessible surface areas; SUCLG1: succinate-CoA ligase GDP/ADP-forming subunit alpha; TCGA: The Cancer Genome Atlas; TKI: tyrosine kinase inhibitors; UCP1: uncoupling protein 1; ULK1: unc-51 like autophagy activating kinase 1; WCL: whole-cell lysate. - Source: PubMed
Publication date: 2026/02/18
Chen KaileiZhang YuanpengRuan HailongWei ZhihaoWang KeshanCao QiWang QiDong ZiruiWu YilongYang HongmeiLiu LeiLiu YuenanZhang Xiaoping - The clinical phenotypes associated with 1q21.1 deletion or duplication syndromes vary considerably among individuals, and the underlying mechanisms remain poorly elucidated. Moreover, data on prenatal ultrasound findings in fetuses carrying these copy number variants are still limited. This study aimed to preliminarily evaluate the association between prenatal phenotypic features and 1q21.1 deletion/duplication syndromes. - Source: PubMed
Publication date: 2025/11/10
Luo XiaojinChen XiaohangTang YanliLiu LiXu JinmaoWu LipingPei YuanyuanLiu WeiqiangWei Fengxiang - After long-term artificial selection and lineage mixing, the Danish Landrace pig (DLR), has developed characteristics such as a long body length, high lean meat rate, rapid growth rate, high litter size, and a longer gestation period, with an average gestation length of 117 days. However, the genes responsible for these desirable traits remain partly unknown. According to the breeding history of DLR pigs, it has undergone introgression from British Large White pigs (BLW), selection for high lean meat rate and long body length within the population, and a rapid improvement in reproductive performance since 1992. Research on Danish Duroc and Large White pigs has detected that the lineage of pigs in Taihu Lake region (TL) has introgressed into these two breeds. Therefore, we performed resequencing and chip scanning on 106 TL pigs and 557 DLR pigs, and downloaded 163 resequencing data from Eurasian pigs for shared haplotype analysis, selective sweep analysis, and GWAS. - Source: PubMed
Publication date: 2025/09/29
Chen JianmeiHuang RuihuaMa JinfengSu GuoshengHuang MinZhou WuduoLiu ChenxiLiu QianLi PinghuaZhao Qingbo