VPS41 Chromosome 7
VPS41 subunit of HOPS complex
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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 ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|HOPS complex"
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000006715
Associated Conditions (3)
Spinocerebellar ataxia
autosomal recessive 29
Hyperimmunoglobulin D with periodic fever
Key Variants
RS199716160
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia
Health Risk
RS544223875
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 29, Hyperimmunoglobulin D with periodic fever
Health Risk
RS759692686
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia
Health Risk
RS1220530084
Pathogenic
Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia
Health Risk
RS1244049089
Pathogenic
Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia
Health Risk
RS1246628003
Pathogenic
Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia
Health Risk
RS2116102196
Pathogenic
Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199716160 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia |
| RS544223875 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 29, Hyperimmunoglobulin D with periodic fever |
| RS759692686 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia |
| RS1220530084 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia |
| RS1244049089 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia |
| RS1246628003 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia |
| RS2116102196 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 29, Spinocerebellar ataxia |