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Article

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.

Journal of inherited metabolic disease - 1 Sept 2020

Tambe Mitali A, Ng Bobby G, Shimada Shino, Wolfe Lynne A, Adams David R, Gahl William A, Bamshad Michael J, Nickerson Deborah A, Malicdan May C V, Freeze Hudson H

Abstract excerpt

The transmembrane domain recognition complex (TRC) targets cytoplasmic C-terminal tail-anchored (TA) proteins to their respective membranes in the endoplasmic reticulum (ER), Golgi, and mitochondria. It is composed of three proteins, GET4, BAG6, and GET5. We identified an individual with compound heterozygous missense variants (p.Arg122His, p.Ile279Met) in GET4 that reduced all three TRC proteins by 70% to 90% in...

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Identifiers

PMID: 32395830
DOI: 10.1002/jimd.12249
PMCID: PMC7508799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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