{"symbol":"GET1","synonyms":[],"name":"guided entry of tail-anchored proteins factor 1","description":"This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]","ncbiEntrezGeneId":7485,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gove/gene/7485","proteins":[],"hgncRootFamilies":[]}