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Article

Key features and clinical variability of COG6-CDG.

Molecular genetics and metabolism - 1 Nov 2015

Rymen Daisy, Winter Julia, Van Hasselt Peter M, Jaeken Jaak, Kasapkara Cigdem, Gokçay Gulden, Haijes Hanneke, Goyens Philippe, Tokatli Aysegul, Thiel Christian, Bartsch Oliver, Hecht Jochen, Krawitz Peter, Prinsen Hubertus C M T, Mildenberger Eva, Matthijs Gert, Kornak Uwe

Abstract excerpt

The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all COG subunits, except subunit 3, have been detected in patients with congenital disorders of glycosylation (CDG) of variable severity. So far, 3 families with a total of 10 individuals with biallelic COG6 mutations have been described,...

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Share to Adaptor Proteins, Vesicular Transport
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26260076
DOI: 10.1016/j.ymgme.2015.07.003

Genes

COG6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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