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DYT32

Chr 11AR

VPS11 core subunit of CORVET and HOPS complexes

Also known as: DYT32, END1, HLD12, HLD12; DYT32, PEP5, RNF108, hVPS11

NCBI Gene: 55823 OMIM: 619637

The protein encoded by this gene is a class C vacuolar protein sorting protein that mediates vesicle trafficking in the endosome/lysosome pathway, functioning as the human homolog of yeast Vps11 protein. Mutations cause dystonia 32, a movement disorder affecting the motor system. The inheritance pattern is autosomal recessive.

OMIM ResearchSummary from RefSeq, OMIM

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

OMIM ResearchGenerating clinical summary…