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Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-3656244

PubChem

R-HSA-3656244

Description

Congenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemically by hypoglycosylation of glycoproteins, diagnosed by isoelectric focusing (IEF) of serum transferrin. There are two types of CDG, types I and II. Type I CDG has defects in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. Clinical symptoms are dominated by severe psychomotor and mental retardation, as well as blood coagulation abnormalities (Jaeken 2013). B4GALT1-CDG (CDG type IId) is a multisystem disease, characterized by dysmorphic features, hydrocephalus, hypotonia and blood clotting abnormalities (Hansske et al. 2002).

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 8** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
O60938	Keratocan	KERA SLRR2B	view
P15291	Beta-1,4-galactosyltransferase 1	B4GALT1 GGTB2	view
P16112	Aggrecan core protein	ACAN AGC1 CSPG1 MSK16	view
P20774	Mimecan	OGN OIF SLRR3A	view
P51884	Lumican	LDC LUM SLRR2D	view
P51888	Prolargin	PRELP SLRR2A	view
Q06828	Fibromodulin	FM FMOD SLRR2E	view
Q99983	Osteomodulin	OMD SLRR2C UNQ190/PRO216	view

Displaying 1 entry
GlyCosmos Lectin	UniProt ID	Lectin Name	Pathway Viewer
GL_000051	P16112	Aggrecan core protein	view

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