VPS11 Chromosome 11
VPS11 core subunit of CORVET and HOPS complexes
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What This Gene Does
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]
Gene Info
Gene Group
"Ring finger proteins|HOPS complex|CORVET complex"
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000160695
Associated Conditions (3)
Hypomyelinating leukodystrophy 12
Dystonia 32
Leukoencephalopathy
Key Variants
RS146380141
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12
Health Risk
RS1555201791
Conflicting classifications of pathogenicity
Health Risk
RS199758476
Conflicting classifications of pathogenicity
Health Risk
RS200887499
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12
Health Risk
RS2134735270
Pathogenic
Dystonia 32, Dystonia 32
Health Risk
RS2134766485
Pathogenic
Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12
Health Risk
RS34757931
Pathogenic/Likely pathogenic
Leukoencephalopathy, Hypomyelinating leukodystrophy 12, Leukoencephalopathy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146380141 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12 |
| RS1555201791 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199758476 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200887499 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12 |
| RS2134735270 | Health Risk | Pathogenic | Dystonia 32, Dystonia 32 |
| RS2134766485 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12 |
| RS34757931 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy, Hypomyelinating leukodystrophy 12, Leukoencephalopathy |