Table 1.

Glycobiology related genes implicated in autism spectrum disorders.

Gene/enzyme	Function	Localization of glycan/ glycoconjugates	Association with ASDs	References
LARGE (LARGE1)	Biosynthesis of the Large glycan (matriglycan)	Pial basement membrane; cell surface glycocalyx	Idiopathic ASD; syndromic ASD	Hehr et al. (2007), van der Zwaag et al. (2009)
LARGE xylosyltransferase and glucuronyltransferase 1
POMGNT1	Biosynthesis of O-mannose linked glycans including the Large glycan (matriglycan)	Pial basement membrane; cell surface glycocalyx	Familial ASD; syndromic ASD	Hehr et al. (2007); Yu et al. (2013)
Protein O-linked mannose
N-acetylglucosaminyltrasferase 1
B3GALNT2	Biosynthesis of O- and N-linked glycans including the Large glycan (matriglycan)	Pial basement membrane; cell surface glycocalyx	Idiopathic ASD	van der Zwaag et al. (2009)
β1,3 N-acetylgalactosaminyltransferase 2
EXT1	Biosynthesis of heparan sulfate chains	Interstitial neural extracellular matrix; cell surface glycocalyx	Idiopathic ASD; syndromic ASD	De Rubeis et al. (2014); Li et al. (2002)
Exostosin glycosyltransferase 1
B3GALT6	Biosynthesis of heparan sulfate and chondroitin sulfate linkage region	Interstitial neural extracellular matrix; cell surface glycocalyx	Idiopathic ASD	van der Zwaag et al. (2009)
β1,3 galactosyltransferase 6
HS3ST5	3-O-sulfation of heparan sulfate chains	Interstitial neural extracellular matrix; cell surface glycocalyx	Idiopathic ASD	Connolly et al. (2013), Wang et al. (2009)
Heparan sulfate glucosaminyl-3-sulfotransferase 5
GPC5/GPC6	Two GPI-anchored heparan sulfate proteoglycans	Interstitial neural extracellular matrix; cell surface glycocalyx	Idiopathic ASD	Pinto et al. (2010)
Glypican 5/6
SGSH	Lysosomal degradation of heparan sulfate	Lysosomal accumulation and possibly extracellular heparan sulfate	Syndromic ASD	Rumsey et al. (2014), Valstar et al. (2011)
Sulfamidase/N-sulfoglucosamine-N-sulfatase
B3GALT1	Biosynthesis of type I polylactosamine units found on N- and O-glycans	Cell surface glycocalyx	Idiopathic ASD	van der Zwaag et al. (2009)
β1,3 galactosyltransferase 1
GCNT2	Branching of type II polylactosamine units found on N-glycans	Cell surface glycocalyx	Idiopathic ASD	van der Zwaag et al. (2009)
β1,6 N-acetylglucosaminyltransferase 2
SLC35A3	Uridine diphosphate N-acetylglucosamine transporter	Cell surface glycocalyx	Familial ASD	Edvardson et al. (2013)
Solute carrier family 35 member A3
GAL3ST2	Sulfation of terminal galactose residues on N- and O-glycans	Cell surface glycocalyx	Idiopathic ASD	van der Zwaag et al. (2009)
Galactose-3-O-sulfotransferase 2
ST8SIA2	Biosynthesis of polysialic acid	Cell surface glycocalyx	Idiopathic ASD	Anney et al. (2010), Kamien et al. (2014)
ST8 N-acetyl-neuraminide α2,8 sialytransferase 2
B3GNT5	Biosynthesis of lactosyltriosylceramide	Cell surface glycocalyx	Idiopathic ASD	van der Zwaag et al. (2009)
UDP-GlcNAcgalactose β1,3
N-acetylglucosaminyltransferase 5
GALNT9	Biosynthesis of mucin-type O-linked glycans	Cell surface glycocalyx	Idiopathic ASD	van der Zwaag et al. (2009)
Polypeptide N-acetylgalactosaminyltransferase 9
GALNTL5	Biosynthesis of mucin-type O-linked glycans	Unknown	Idiopathic ASD	van der Zwaag et al. (2009)
Polypeptide N-acetylgalactosaminyltransferase 5