VPS11

Chr 11AR

VPS11 core subunit of CORVET and HOPS complexes

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

NCBI Gene: 55823 ENSG00000160695 UniProt: Q9H270 OMIM: 608549

This protein functions as a core component of endosomal tethering complexes that regulate vesicle trafficking to lysosomes, mediating fusion of endosomes and autophagosomes with lysosomes. Biallelic mutations cause autosomal recessive leukodystrophy with hypomyelination and dystonia, affecting the central nervous system through disrupted lysosomal function. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.538), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…