Protein Name VPS26 endosomal protein sorting factor C
Organism Homo sapiens
Gene ID 10311
Gene Symbol

VPS26C

UniProt O14972 (VP26C_HUMAN), A8MY26 (A8MY26_HUMAN), A8MTY9 (A8MTY9_HUMAN)
Relationships Total Number of functionally related compound(s) : 2
Total Number of Articles : 1
Description

VPS26 endosomal protein sorting factor C

Gene 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]

synonyms
  • vacuolar protein sorting-associated protein 26C
  • DSCR3 arrestin fold containing
  • Down syndrome critical region 3
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Properties