VPS26C, Official Symbol VPS26Cprovided by HGNC Official Full Name VPS26 endosomal protein sorting factor Cprovided by HGNC Primary source HGNC:HGNC:3044 See related Ensembl:ENSG00000157538 MIM:605298; AllianceGenome:HGNC:3044 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Ubiquitous expression in kidney (RPKM 11.4), duodenum (RPKM 10.8) and 25 other tissues See more Orthologs mouse all