VPS50 Chromosome 7
VPS50 subunit of EARP/GARPII complex
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What This Gene Does
Enables SNARE binding activity. Acts upstream of or within endocytic recycling. Located in recycling endosome. Part of EARP complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Endosome-associated recycling protein (EARP) complex
Locus Type
gene with protein product
Location
7q21.2-q21.3
Ensembl
ENSG00000004766
Associated Conditions (3)
Neurodevelopmental disorder with microcephaly
seizures
and neonatal cholestasis
Key Variants
RS1262620713
Likely pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
Health Risk
RS2546603981
Likely pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
Health Risk
RS2116989385
Pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
Health Risk
RS745695719
Pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1262620713 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis |
| RS2546603981 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis |
| RS2116989385 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis |
| RS745695719 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis |