GlyCosmos Portal

Submissions

Defective ST3GAL3 causes MCT12 and EIEE15

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-3656243

PubChem

R-HSA-3656243

Description

CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (ST3GAL3) mediates the transfer of sialic acid from CMP-sialic acid to galactose-containing glycoproteins and forms the sialyl Lewis a epitope on proteins which are required for attaining and/or maintaining higher cognitive functions. Some defects in ST3GAL3 result in mental retardation, autosomal recessive 12 (MRT12; MIM:611090), a disorder characterised by below average general intellectual function and impaired adaptive behaviour (Najmabadi et al. 2007, Hu et al. 2011). Another defect of ST3GAL3 can cause early infantile epileptic encephalopathy-15 (EIEE15: MIM:615006), resulting in severe mental retardation (Edvardson et al. 2012).

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
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
Q11203	CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase	SIAT6 ST3GAL3	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

If you want to check the location of a particular molecule, you can do so by clicking on the "Switching Highlight" button on the page you have navigated to by clicking on "view".

About Release Notes Help Feedback

Click here to visit the beta site.