The VMA21 Polyclonal Antibody (PAC013179) is a valuable tool for researchers studying VMA21, a protein involved in the assembly of the vacuolar ATPase (V-ATPase) complex. This antibody, produced in rabbits, exhibits high specificity and sensitivity when detecting VMA21 in human samples, making it suitable for Western blot applications.VMA21 is essential for the proper functioning of the V-ATPase complex, which is responsible for maintaining the acidic pH of organelles and regulating various cellular processes such as endocytosis, protein degradation, and neurotransmitter release.
Dysregulation of V-ATPase function has been linked to numerous diseases, including cancer, neurodegenerative disorders, and lysosomal storage diseases.By using the VMA21 Polyclonal Antibody, researchers can investigate the role of VMA21 in cellular physiology and disease pathogenesis, ultimately leading to a better understanding of V-ATPase-related disorders and the development of potential therapeutic interventions.
VMA21 vacuolar H+-ATPase homolog (S. cerevisiae);VMA21;MGC125514;MGC125516;MGC131652 ;
UniProt Protein Function:
VMA21: Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum. Defects in VMA21 are the cause of X-linked myopathy with excessive autophagy (MEAX). MEAX is a childhood-onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. It is inherited in recessive fashion, affecting boys and sparing carrier females. Onset is in childhood, and patients exhibit weakness of the proximal muscles of the lower extremities, progressing slowly to involve other skeletal muscle groups over time. Other organs including the heart and brain are clinically unaffected. Phenotype is due to an increase of lysosomal pH from 4.7 to 5.2, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, which up-regulates the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge together, and vacuolate the cell. Belongs to the VMA21 family. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Membrane protein, integral; Membrane protein, multi-passChromosomal Location of Human Ortholog: Xq28Cellular Component: endoplasmic reticulum membrane; ER-Golgi intermediate compartment membrane; COPII vesicle coat; lysosome; integral to membraneDisease: Myopathy, X-linked, With Excessive Autophagy
UniProt Protein Details:
NCBI Summary:
This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
