VPS26 Endosomal Protein-Sorting Factor C

Alternative Names

  • VPS26C
  • Down Syndrome Critical Region Gene 3
  • DSCR3
  • Down Syndrome Critical Region Gene A
  • DSCRA
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OMIM Number

605298

NCBI Gene ID

10311

Uniprot ID

O14972

Length

44,689 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Vacuolar protein sorting-associated protein 26C

Molecular Mass

33010 Da

Amino Acid Count

297

Genomic Location

chr21:37,223,419-37,268,107

Gene Map Locus
21q22.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_006052.2:c.178G>TUnited Arab EmiratesNC_000021.9:g.37240519C>ANG_009410.1:g.32015G>T; NM_006052.2:c.178G>T; NP_006043.1:p.Glu60Ter
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