VPS53
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Vacuolar protein sorting 53 homolog (S. cerevisiae) is a protein that in humans is encoded by the VPS53 gene.[1]
Function
[edit | edit source]This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008].
Mutations in VPS53 cause pontocerebellar hypoplasia type 2E, PCH2E ( also known as progressive cerebello-cerebral atrophy type 2, PCCA2).[2]
References
[edit | edit source]Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
