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GSD IV

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-3878781

PubChem

R-HSA-3878781

Description

Normally, cytosolic glycogen branching enzyme (GBE1) associated with glycogen granules transfers terminal alpha(1,4) glucose blocks to form alpha(1,6) branches on growing glycogen molecules of both liver and muscle types. In the absence of GBE1 activity, abnormal amylopectin-like glycogen with longer alpha(1,4) chains and fewer branch points forms in all tissues where glycogen is normally found. Presentation of the disease is clinically heterogeneous: missense and nonsense mutations associated with little or no enzyme activity can lead to progressive liver disease or neuromuscuolar disease (Bao et al. 1996; Bruno et al. 2004).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 2** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
O15488	Glycogenin-2	GYG2	view
P54840	Glycogen [starch] synthase, liver	GYS2	view

Displaying 1 entry
GlyCosmos Lectin	UniProt ID	Lectin Name	Pathway Viewer
GL_001183	Q04446	1,4-alpha-glucan-branching enzyme	view

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