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Exome sequence analysis for the proband led to the identification of novel homozygous frameshift c.2085_2088del (p.(Ser695Argfs*12)) in ATP6V0A2, within the linked region, in the two affected siblings.
Low ATP6V0A2 expression is associated with asthenozoospermia.
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.
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.
In cisplatin resistant cells, shRNA mediated inhibition of V-ATPase-V0a2 enhanced sensitivity towards both cisplatin and carboplatin.
a2V deficiency disrupts the endolysosomal route in Notch and TGF signaling, thereby impairing mammary gland development.
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.
the results from this study demonstrate that the a2-subunit isoform of Vacuolar ATPase regulates Notch signaling in breast tumor cells
The granule-associated a2V isoform has a role in maintaining a pH gradient within the cell between the cytosol and granules in neutrophils.
Case Report: novel ATP6V0A2 mutations in an infant with cutis laxa.
Expression of a2 vacuolar ATPase in spermatozoa is associated with semen quality and chemokine-cytokine profiles in infertile men.
Mutations in the ATP6V0A2 gene is associated with autosomal recessive cutis laxa.
A mechanism is described by which tumor-associated macrophages mature via a nontraditional cytokine-like signal, the a2NTD peptide.
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.
Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO.
Studies indicate that mutations in the ATP6V0A2 gene were found in families with autosomal recessive cutis laxa.
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.
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
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.
Its role in organellar proton pumping suggests that hTJ6 function may participate in protein trafficking/processing.
These data show that host cell-associated V-ATPase expression levels can affect breast cancer dissemination, at least in part, through Extracellular matrix remodeling.
The data provide novel evidence showing that a2V can regulate the apoptotic pathways, an essential testicular feature, and is necessary for efficient spermatogenesis.
These observations suggest that a2V plays a crucial role in spermatogenesis by regulating testicular immune responses, and its inhibition in males leads to poor pregnancy outcome in females.
Report Atp6v0a2 up-regulation/inflammatory response during preimplantation period of pregnancy may lead to successful pregnancy outcome.
Deceased expression of Atp6v0a2 in the various immune cell populations of the spleen and blood suggests that the maternal environment is not supportive to fetus and leads to poor pregnancy outcome in the abortion-prone mating model
a2V regulates the delicate cytokine and chemokine networks that coordinate the recruitment of macrophages for successful placental development and growth at the feto-maternal interface.
These results suggest that ISF/ShIF confers stromal cells with enhanced supporting activities for HSCs by modulating Wnt-activity and the extracellular matrix.
Data demonstrate the crucial role of early endosomal acidification and V-ATPase/ARNO/Arf6 interactions in the regulation of the endocytic degradative pathway.
Immunolocalization demonstrated expression of all 'a' subunits in the proximal tubule and in the intercalated cells of the collecting system. PCR detected mRNAs encoding all four 'a' isoforms with a relative abundance in the following order: a4>a2=a1>a3.
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.
, V-type proton ATPase 116 kDa subunit a isoform 2
, lysosomal H(+)-transporting ATPase V0 subunit a2
, regeneration and tolerance factor
, v-ATPase 116 kDa
, v-type proton ATPase 116 kDa subunit a
, vacuolar proton translocating ATPase 116 kDa subunit a
, ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)
, ATPase, H+ transporting, lysosomal V0 subunit a
, T-cell expressing clone j6
, V-type proton ATPase 116 kDa subunit a
, immune suppressor factor J6B7
, ATPase, H+ transporting, lysosomal V0 subunit a2
, vacuolar H(+)-transporting ATPase 116 kDa subunit, a2 isoform
, V-ATPase 116 kDa
, vacuolar proton translocating ATPase 116-kDa subunit a2