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VPS26C VPS26 endosomal protein sorting factor C

Gene ID: 10311, updated on 28-Oct-2024
Gene type: protein coding
Also known as: DCRA; DSCR3; DSCRA

Summary

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]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-04-24)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-04-24)

ClinGen Genome Curation Page

Genomic context

Location:
21q22.13
Sequence:
Chromosome: 21; NC_000021.9 (37223420..37268108, complement)
Total number of exons:
9

Links

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