Defective ST3GAL3 causes MCT12 and EIEE15

Stable Identifier
R-HSA-3656243
Type
Pathway
Species
Homo sapiens
Synonyms
Defective ST3GAL3 causes mental retardation, autosomal recessive 12 and early infantile epileptic encephalopathy-15
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Summation

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).

Participants
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Disease
Name Identifier Synonyms
developmental disorder of mental health 0060037