VPS25 Chromosome 17
Vacuolar protein sorting 25 homolog
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What This Gene Does
This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
ESCRT-II
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000131475
Associated Conditions (1)
VPS25-related neurodevelopmental delay
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141909224 | Health Risk | Conflicting classifications of pathogenicity | VPS25-related neurodevelopmental delay, VPS25-related neurodevelopmental delay |
| RS2543968571 | Health Risk | Likely pathogenic | VPS25-related neurodevelopmental delay, VPS25-related neurodevelopmental delay |