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These data provide evidence that partial loss of ATP6V1H function results in osteoporosis/osteopenia.
These studies have uncovered a new, ATP6V1H-mediated pathway that regulates bone formation, and defines a new mechanism of disease that leads to bone loss. We propose that MMP9 (show MMP9 Proteins)/MMP13 (show MMP13 Proteins) could be therapeutic targets for patients with this rare genetic disease.
ATP6V1H may represent a critical molecular mechanism involved in the development of type 2 diabetes and its compilations through its important regulatory effect on vacuolar-ATPase activity.
Data show that the BCG (show SLC11A1 Proteins) phagosome is relatively depleted in LAMP-2 (show LAMP2 Proteins), NPC1 (show NPC1 Proteins), flotillin-1 (show FLOT1 Proteins), vATPase, and syntaxin 3 (show STX3 Proteins).
Data indicate an important role for the vacuolar-type hydrogen-ATPase and the Golgi apparatus in postendocytic PTH/PTHrP receptor (show PTH1R Proteins) recovery.
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
V-ATPase 50/57 kDa subunits
, V-ATPase subunit H
, V-type proton ATPase subunit H
, nef-binding protein 1
, protein VMA13 homolog
, vacuolar ATP synthase subunit H
, vacuolar ATPase subunit H
, vacuolar proton pump subunit H
, vacuolar proton pump subunit SFD
, ATPase, H+ transporting, lysosomal, V1 subunit H
, 54 kDa vacuolar H(+)-ATPase subunit
, Vacuolar proton pump subunit H
, ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
, V-ATPase H subunit
, vacuolar proton pump H subunit
, un-named hi923
, unm hi923