ATP6V0A4
- Known as:
- ATP6V0A4
- Catalog number:
- 002248A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATP6V0A4
Related genes to: ATP6V0A4
- Gene:
- ATP6V0A4 NIH gene
- Name:
- ATPase H+ transporting V0 subunit a4
- Previous symbol:
- ATP6N1B, ATP6N2, RTA1C
- Synonyms:
- RDRTA2, VPP2, RTADR, a4, Vph1, Stv1
- Chromosome:
- 7q34
- Locus Type:
- gene with protein product
- Date approved:
- 2000-03-29
- Date modifiied:
- 2019-04-23
Related products to: ATP6V0A4
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- Distal renal tubular acidosis (dRTA) is a heterogeneous group of disorders of impaired distal acid secretion, leading to normal anion gap metabolic acidosis, growth failure and nephrocalcinosis. Although a genetic basis is well established, the genetic aetiology may differ in Asian populations; however, large multicenter studies from Asia are limited. - Source: PubMed
Publication date: 2026/08/20
Bhatt Girish ChandraKrishnamurthy SriramSinha AditiMittal AlizaKumar ManishVijay NagarjunDeepthi BobbityAthira PAparna K VThergaonkar RanjeetPakhare AbhijitKrishnasamy SudarsanYadav MenkaMishra KirtisudhaDhingra BhavnaSingh KuldeepKumar AshokKumar AmberSharma TanyaShukla SanjeevMaheshwari MaheshMalik ShikhaHari PankajBagga Arvind - Distal renal tubular acidosis (dRTA) is a rare inherited disorder characterized by impaired urinary acidification, leading to metabolic acidosis, hypokalemia, nephrocalcinosis, and growth impairment. Pathogenic variants in ATP6V0A4 are among the most common genetic causes of autosomal recessive dRTA. - Source: PubMed
Publication date: 2026/08/13
Hachem TatianaAbou Jaoude PaulineSalem NabihaChebly Alain - Growth traits, as core economic indicators in pig breeding, are closely associated with production costs, rearing duration, and final carcass quality and have thus consistently been a major focus of genetic improvement. This study aimed to identify candidate genes affecting Age to 120 kg live weight (AGE120), Backfat thickness at 120 kg (BF120), and Loin muscle depth at 120 kg (LMD120) in pigs. Ear tissue samples were collected from 3364 healthy adult pigs (including 558 boars and 2805 sows) from three breeds: Large White, Landrace, and Duroc. Genotyping was performed using an 80 K functional site array, and quality-controlled SNP (Single-Nucleotide Polymorphism) loci were subjected to genotype imputation, resulting in 15,447,611 loci obtained. Genome-wide association studies (GWASs) for Age to 120 kg live weight, Back fat thickness at 120 kg, and Loin muscle depth at 120 kg were conducted using a mixed linear model in Genome-wide Complex Trait Analysis (GCTA). Genes located within 500 kb upstream and downstream of significant GWAS loci were extracted using the biomaRt package in R. Furthermore, colocalization analysis was performed using expression Quantitative Trait Locus (eQTL) data of 34 tissues from the PigGTEx database to identify genes that share the same causal variant as the GWAS signals. Through integrated GWAS and eQTL colocalization analysis, in addition to five previously reported genes associated with pig growth traits (, , , , and ), a set of novel, high-confidence candidate genes was identified: , , , , , , , , and . These findings enrich our understanding of the genetic architecture underlying growth traits in pigs at heavy body weights and provide an important foundation for subsequent functional validation and molecular breeding applications. - Source: PubMed
Publication date: 2026/07/22
Wu XiangziWu JunjingGu YirenQiao MuZhou JiaweiLi ZipengFeng YueChen TongChen DakeMei ShuqiPeng XianwenXu Zhong - Human naïve pluripotent stem cells (nPSCs) can be induced by various combinations of signaling factors to generate blastocyst-like structures, termed blastoids. Despite rapid progress in human blastoid models, their potential to uncover fundamental mechanisms of early human development remains limited, leaving key morphogenetic processes poorly understood. Here, we describe a simple and robust system in which dimethyl sulfoxide (DMSO) alone induces blastoid formation from human nPSCs. This model recapitulates key pre- and post-implantation features and exhibits enhanced polar trophectoderm (TE) organization, more efficient attachment within an implantation-relevant window, improved epiblast lumenogenesis associated with amniotic cavity formation, and more robust, sustained expansion of embryonic lineages following attachment. Using this system, we reveal a previously unrecognized mechanism underlying TE cavitation and identify lysosome-associated genes - particularly subunits of the proton pump V-ATPase - as essential regulators of blastoid cavitation. DMSO treatment upregulates key V-ATPase subunits (ATP6V0A4 and ATP6V1B1), which are also enriched in the TE of human embryos. Genetic or pharmacological inhibition of V-ATPase activity disrupts lysosomal acidification, blocks intracellular vacuole formation, and impairs blastoid cavitation, whereas overexpression of V-ATPase subunits rescues this phenotype. Furthermore, genetic and pharmacological perturbations of V-ATPase function significantly compromise cavitation in both mouse and human blastocysts. Finally, DMSO treatment induces membrane biomechanical changes characteristic of early embryonic development, suggesting a mode of action distinct from conventional small-molecule, signaling pathway-based induction strategies. This simple DMSO-based blastoid model recapitulates key aspects of human blastocyst development and reveals a conserved requirement for V-ATPase-mediated lysosomal acidification during early mammalian embryogenesis. - Source: PubMed
Publication date: 2026/04/06
Alsolami SamhanChandrasekaran Arun PandianJin YiqingWang YiboZhang LingShakir Ismail MZhang YingziSiddique AishaRamos-Mandujano GerardoYuan BaoleiAyach MayaSaera-Vila AlfonsoFan ZejunFu SiyiZhang HuomingXin SaigeAlDakhil Kholoud KhalidIzpisua Belmonte Juan CarlosZhang JinYu YangLi Mo - - Source: PubMed
Publication date: 2026/03/26
Alsubaie HadelGandhi KrishnaLemaire Mathieu