Gene VMA21 Sign in or register to save this reagent to your favourites Supplier provided information Validations None provided Applications Enzyme-linked immunosorbent assay (ELISA) Immunofluorescence (IF) Western Blotting (WB) Reactivity Bos taurus (Bovine) Canis lupus familiaris (Domestic dog) Equus...
No other mutations in the VMA21 gene have since been described. Here we report the case of a man who presented at the age of 23years with a two year history of difficulty with stairs because of weakness of the legs. Clinical examination revealed reduced muscle mass in the legs compared ...
Gene Symbol VMA21 Gene ID (NCBI) 203547 RRID AB_10896457 Conjugate Unconjugated Form Liquid Purification Method Antigen affinity purification UNIPROT ID Q3ZAQ7 Storage Buffer PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage Conditions Store at -20°C. Stable for one year after shi...
Gene ID (NCBI)203547 RRIDAB_10896457 ConjugateUnconjugated FormLiquid Purification MethodAntigen affinity purification Storage BufferPBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage ConditionsStore at -20°C. Stable for one year after shipment.Aliquoting is unnecessary for -20oC storage....
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein,...
which is found in humans. VMA21 forms a part of the vacuolar ATPases (V-ATPases), which are expressed in the endomembrane systems of all eukaryotes. It has 14 subunits arranged in two domains, transmembrane V0domain and cytoplasmic V1domain. In humans, this gene is localized to chromosom...
Gene ontology(GO)分析揭示了退行性NP组织中上调的miRNA和细胞凋亡信号通路的调节之间的相关性。荧光报告系统结果表明miR-200c抑制野生型XIAP报告基因活性,而miR-200c对突变的XIAP报告基因活性没有影响(图2B)。在退行性NP组织中观察到XIAP(图2C)。在NPC中miR-200c水平升高抑制XIAP表达,而内源miR-200c的敲低增加...
Here we describe the first XMEA Brazilian family carrying a small in/del in the VMA21 gene. The 5-year-old propositus presented a characteristic dystrophic phenotype. He walked at the age of 2 and showed difficulties for running, climbing stairs, and raising from the floor. No calf ...
We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p, VMA21 is an essential assembly chaperone of the vacuolar ATPase (V-ATPase), the principal mammalian proton pump complex. ...
X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in ChinaNeurologyNeuroradiologyNeurosurgeryPsychiatryNeurological Sciences -doi:10.1007/s10072-021-05788-wJie,YangDingbang,ChenLi,FengZhicong,YanChao,Wu