Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

doi:10.1016/j.ajhg.2021.05.010

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Article

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

American journal of human genetics - 1 Jul 2021

Polla Daniel L, Edmondson Andrew C, Duvet Sandrine, March Michael E, Sousa Ana Berta, Lehman Anna, Niyazov Dmitriy, van Dijk Fleur, Demirdas Serwet, van Slegtenhorst Marjon A, Kievit Anneke J A, Schulz Celine, Armstrong Linlea, Bi Xin, Rader Daniel J, Izumi Kosuke, Zackai Elaine H, de Franco Elisa, Jorge Paula, Huffels Sophie C, Hommersom Marina, Ellard Sian, Lefeber Dirk J, Santani Avni, Hand Nicholas J, van Bokhoven Hans, He Miao, de Brouwer Arjan P M

Abstract excerpt

EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and degraded by the proteasome. In this study, through a combination of exome sequencing and gene matching, we have identified seven independent families...

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PMID: 34143952
DOI: 10.1016/j.ajhg.2021.05.010
PMCID: PMC8322938

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