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VMA21 encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012].. Additionally we are shipping and many more products for this protein.
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A Japanese family afflicted by X-linked myopathy with excessive autophagy displayed high urinary beta2 microglobulin without renal dysfunction. Decreased urine acidification in the distal convoluted tubules might be caused by the VMA21 gene mutation.
This study showed that LOC203547 is the human ortholog of Vma21p, and that hypomorphic mutations of the VMA21 gene disrupt autophagy and cause -linked Myopathy with Excessive Autophagy.
This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.
myopathy with excessive autophagy protein
, vacuolar ATPase assembly integral membrane protein VMA21
, UPF0569 transmembrane protein LOC203547 homolog