ATP6V0A2 Antibody

1. Data suggest that missense mutations in ATP6V0A2 and ATP6V0A4 that cause either cutis laxa or distal renal tubular acidosis result in enzyme subunits that are unstable, retained in endoplasmic reticulum (rather than transported to Golgi and cell membrane), and quickly degraded by proteasomes despite full glycosylation. PMID: 29311258
2. Study shows how tumor associated a2-isoform V-ATPase can induce neutrophil migration by stimulating autocrine secretion of IL-8, suggesting a mechanism for the creation of a level of inflammation that favors cancer growth. PMID: 27845385
3. In cisplatin resistant cells, shRNA mediated inhibition of V-ATPase-V0a2 enhanced sensitivity towards both cisplatin and carboplatin. PMID: 26899534
4. a2V deficiency disrupts the endolysosomal route in Notch and TGF signaling, thereby impairing mammary gland development. PMID: 27809299
5. Senescence-associated impaired expression of ATP6V0A2 triggers changes in Golgi structure and glycosylation in old fibroblasts, which demonstrates a role of ATP6V0A2 in cellular senescence program. PMID: 26611489
6. the results from this study demonstrate that the a2-subunit isoform of Vacuolar ATPase regulates Notch signaling in breast tumor cells PMID: 26418877
7. The granule-associated a2V isoform has a role in maintaining a pH gradient within the cell between the cytosol and granules in neutrophils. PMID: 25877929
8. Case Report: novel ATP6V0A2 mutations in an infant with cutis laxa. PMID: 24815019
9. Expression of a2 vacuolar ATPase in spermatozoa is associated with semen quality and chemokine-cytokine profiles in infertile men. PMID: 23936208
10. Mutations in the ATP6V0A2 gene is associated with autosomal recessive cutis laxa. PMID: 22773132
11. A mechanism is described by which tumor-associated macrophages mature via a nontraditional cytokine-like signal, the a2NTD peptide. PMID: 21178005
12. Data show that the V-ATPase a2-subunit might actually be embedded into and/or closely associated with membrane phospholipids even in the absence of any obvious predicted transmembrane segments. PMID: 20669186
13. Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO. PMID: 20153292
14. Studies indicate that mutations in the ATP6V0A2 gene were found in families with autosomal recessive cutis laxa. PMID: 19401719
15. RTF (Regeneration and tolerance factor), the alpha-2 isoform of the alpha subunit of vacuolar ATPase, has a role in controlling IL-1 beta secretion by regulating P2X7 activity. PMID: 15301855
16. cells were not susceptible to apoptosis when the 70-kDa RTF was present but were when the 50-kDa RTF was present; the increase in levels of the 50-kDa RTF on cells from HIV-positive individuals is important in preventing apoptosis PMID: 15358640
17. RTF is constitutively expressed at endometrial and decidual level, and its up-regulation during the secretory phase of the cycle may be relevant in mediating some immune-related aspects of uterine physiology. PMID: 15373763
18. Its role in organellar proton pumping suggests that hTJ6 function may participate in protein trafficking/processing. PMID: 16113235
19. Data suggest a role for the N-terminus domain of the a2 isoform of vacuolar ATPase in the regulation of IL-1beta pro-inflammatory cytokine production at the fetal-maternal interface. PMID: 17295899
20. Study identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. PMID: 18157129
21. the relationship between ATP6V0A2 mutations, the glycosylation defect and the autosomal recessive cutis laxa type II phenotype is discussed [review] PMID: 19171192
22. Loss-of-function mutations in ATP6V0A2 lead to tropoelastin aggregation in the Golgi and increased apoptosis of elastogenic cells. PMID: 19321599

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HGNC: 18481

OMIM: 219200

KEGG: hsa:23545

STRING: 9606.ENSP00000332247

UniGene: Hs.25786