VPS26C Chromosome 21
VPS26 endosomal protein sorting factor C
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What This Gene Does
The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Retriever complex
Locus Type
gene with protein product
Location
21q22.13
Ensembl
ENSG00000157538
Associated Conditions (1)
Neurodevelopmental disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2086074876 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |