{"symbol":"ATP6V1H","synonyms":["CGI-11","SFDBETA","VMA13","SFDALPHA","MSTP042"],"name":"ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H","description":"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. [provided by RefSeq, May 2012]","ncbiEntrezGeneId":51606,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/51606","proteins":[{"symbol":"VATH_HUMAN","href":"/api/1.0/protein/VATH_HUMAN"}],"hgncRootFamilies":[{"name":"ATPases","href":"/api/1.0/gene_family/ATPases"}]}