Gene: GET1

Alternate names for this Gene: CHD5|WRB

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.2

Description of this Gene: guided entry of tail-anchored proteins factor 1

Type of Gene: protein-coding

Gene: GET1-SH3BGR

Alternate names for this Gene: WRB-SH3BGR

Gene Summary: This locus represents naturally occurring readthrough transcription between the neighboring WRB (tryptophan rich basic protein) and SH3BGR (SH3 domain binding glutamate-rich protein) genes on chromosome 21. Readthrough transcripts may encode fusion proteins that shares sequence identity with each individual gene product.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.2

Description of this Gene: GET1-SH3BGR readthrough

Type of Gene: protein-coding