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Protein-coding gene in the species Homo sapiens
ER lumen protein retaining receptor 2 is a protein that in humans is encoded by the KDELR2 gene .[ 5] [ 6] [ 7]
Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, lys -asp -glu -leu (KDEL ) in animal cells and his -asp-glu-leu (HDEL ) in S. cerevisiae [ 7]
Implications in Disease [ edit ] Pathogenic variants in KDELR2 have been linked to Osteogenesis imperfecta .[ 8]
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