Ask about this productRelated genes to: ATP6V0A2 antibody
- Gene:
- ATP6V0A2 NIH gene
- Name:
- ATPase H+ transporting V0 subunit a2
- Previous symbol:
- -
- Synonyms:
- TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1
- Chromosome:
- 12q24.31
- Locus Type:
- gene with protein product
- Date approved:
- 2002-05-09
- Date modifiied:
- 2016-02-11
Related products to: ATP6V0A2 antibody
Related articles to: ATP6V0A2 antibody
- Congenital disorders of glycosylation (CDG) are a group of inherited metabolic diseases rapidly growing due to the discovery of new subtypes. As with many genetic conditions, their diagnosis can be challenging, impairing proper patient care and causing additional suffering to patients and their families. We have developed an N-glycomics strategy that can provide insightful information towards diagnosing CDG type II (CDG-II). N-glycans released from the plasma of healthy individuals were labeled with deuterated iodomethane, mixed with samples from known or suspected CDG-II individuals, which were derivatized with standard iodomethane, and analyzed by liquid chromatography-mass spectrometry. After identification, relative quantification of 65 glycans was performed, revealing considerable alterations in the N-glycome of several patients. Notably, reduced fucosylation was observed in patients with FUT8-CDG and SLC35C1-CDG. Additionally, individuals with mutations in the gene exhibited increased amounts of hybrid and oligomannosidic structures, whereas patients with the Golgi homeostasis disorders -CDG and -CDG presented marked increases in hypogalactosylated and hyposialylated structures. Multivariate statistical analysis indicated two undiagnosed patients with alterations similar to ATP6V0A2-CDG patients and another two with a profile similar to MAN1B1-CDG patients. Genetic sequencing (targeted gene panel or whole exome sequencing) of these undiagnosed patients revealed variants in the corresponding genes, confirming the diagnosis obtained from the N-glycomics analysis. Our results demonstrate how the analysis of total plasma N-glycans can be used to identify metabolic disorders and diagnose conditions based on their molecular effects on the glycoproteome. - Source: PubMed
Publication date: 2026/07/15
Mól Alan RFontes Nilza do CSantos Savana C LCosta E Silva CynthiaCarvalho Gerson da SLima Bruno J C Bde Mello Walquíria Dde Carvalho Daniel RBarbosa Eder ALefeber Dirk JMazzeu Juliana FBrum Jaime MBrand Guilherme D - Variants of uncertain significance (VUS) are a substantial barrier to clinical care in genetics, and VUS that are suspected to affect splicing can be particularly difficult to resolve. We used exome sequencing (ES) followed by variant-specific RNA testing to resolve VUS in four separate cases resulting in reclassification to Likely Pathogenic and a positive molecular diagnosis in all cases. - Source: PubMed
Publication date: 2026/07/01
O'Neill Audrey KVanNoy Grace EGasser BrooklynnGage JessicaGrzybowski JessicaHorton CarolynHolman MelissaWatson ClaireIchikawa ShojiXiao ChangruiMittag DanaFerren Edwin CLevine ErikaBarbosa MafaldaBiddle JosephSadler LaurieSamons MelissaZimmermann HeatherRichardson Marcy E - Gene mutations and altered epigenetic regulation of gene expression are characteristic features of malignant neoplasms. Combinations of these abnormalities form molecular features of individual tumors. In the large-scale Dependency Map (DepMap) project, the broad panels of human tumor cell lines are being tested for sensitivity to single gene inactivation. Using DepMap data, we have previously identified a set of genes termed supertargets, the deletion of which significantly reduced the survival of cells of a particular tissue origin while minimally impairing the unrelated cell lines. In the present study, we determined the factors of viability (inhibition of proliferation or death) of cell lines in which the supertarget genes have been deleted. We found that, in 79 % of cases, the reduced survival may be caused by epigenetic changes of gene expression. In the remaining 21 % of cases, it is associated with altered gene structure. Three groups containing different types of gene expression alterations can be distinguished. In the first group, the reduced cell survival correlated with a higher expression of the supertarget gene (e. g., SOX10 and HNF1B). In the second group, a gene different from the deleted supertarget was overexpressed (gene pairs: FOXA1 and SPDEF, TP63 and SERPINB13, etc.). The third group was characterized by correlations between low expression of a certain gene and tumor cell sensitivity (e. g., FAM126A and FAM126B, SMARCA2 and SMARCA4). The genetic changes included GOF mutations (KRAS, BRAF genes, etc.), LOF mutations (STAG1, SMARCA2 genes, etc.), gene fusions (BCR-ABL1, PAX3-FOXO1, etc.), and amplification (CPM, BEST3, etc.). Therefore, many different molecular mechanisms act as predictors of tumor cell response to inhibition of supertarget genes. - Source: PubMed
Chetverina D AKozelchuk N YLomaev D VShtil A AErokhin М M - ATP6V0A2-related cutis laxa is a rare autosomal recessive disorder characterized by connective tissue abnormalities, developmental delay, and neurological features. While multiple sequence variants have been reported, exon-level deletions are rarely documented, and their clinical significance remains largely unknown. This study aims to present the clinical and molecular characteristics of a novel frameshift variant and recurrent exon 16 deletions in the ATP6V0A2 gene, to investigate a potential founder effect in southeastern Türkiye, and to contribute to the expanding genotype-phenotype correlation in ATP6V0A2-related cutis laxa. Ten cases from six unrelated families were evaluated. Exome sequencing, clinical exome sequencing, long-range polymerase chain reaction, gel electrophoresis, and haplotype analysis were performed. Variant interpretation followed ACMG and ClinGen guidelines. Clinical features were assessed through physical examination, developmental history, and neuroimaging. A novel homozygous frameshift variant (c.235del, p.Leu79Phefs*13) associated with severe neurological regression was identified in one case. Nine individuals carried a recurrent homozygous 380 bp deletion spanning exon 16 (c.1936-147_2055+113del). In our study, neurological regression-a feature rarely reported in the literature-was noted in two older patients. Haplotype analysis revealed shared homozygous regions in three cases, suggesting a founder effect. This cohort represents the largest reported series of ATP6V0A2-CL cases with exon 16 deletion to date. This study expands the genotypic and phenotypic spectrum of ATP6V0A2-CL and underscores the importance of copy number variation detection in next-generation sequencing-based diagnostics. The identification of a recurrent exon 16 deletion and shared haplotypes provides evidence for a founder effect in southeastern Türkiye and supports the implementation of population-specific screening for this variant. - Source: PubMed
Publication date: 2026/02/24
Esener ZeynepÖztürk MuratHabiloğlu EsraTekmenuray-Ünal AyselÜnsel-Bolat GülEşmeli FigenSezer AbdullahBulut EdanurBolat Hilmi - SARS-CoV-2 non-structural protein 6 (NSP6) in the host's tissue-specific complexities remains a mystery and needs more in-depth attention because of COVID-19 recurrence and long COVID. Its reported role in immune evasion, viral replication and egress from the cells as well as its gain of function mutations occurring independently in various variants underscores its importance. - Source: PubMed
Publication date: 2025/10/22
Chatterjee ShrabontiMahata JoydeepKateriya SuneelAnirudhan Gireesh