Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)

Stable Identifier
R-HSA-5619083
Type
Pathway
Species
Homo sapiens
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The human gene SLC35A3 encodes a UDP-GlcNAc transporter. It is ubiquitously expressed and resides on the Golgi membrane where it transports UDP- N-acetylglucosamine (UDP-GlcNAc) into the Golgi lumen in exchange for UMP. UDP-GlcNAc is a substrate required by Golgi-resident glycosyltransferases that generate branching of N-glycosylated proteins. Defects in SLC35A3 can cause arthrogryposis, mental retardation, and seizures (AMRS; MIM:615553) (Edvardson et al. 2013). Patient cells show a large reduction of tetraantennary N-glycans with an accumulation of abnormal lower-branched glycoproteins, although the serum N-glycome was normal.

Literature References
PubMed ID Title Journal Year
24031089 Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

Edvardson, S, Ashikov, A, Jalas, C, Sturiale, L, Shaag, A, Fedick, A, Treff, NR, Garozzo, D, Gerardy-Schahn, R, Elpeleg, O

J. Med. Genet. 2013
Participants
Participates
Disease
Name Identifier Synonyms
epilepsy syndrome DOID:1826 epilepsy, epileptic syndrome
developmental disorder of mental health DOID:0060037
distal arthrogryposis DOID:0050646 Sheldon-Hall syndrome, Freeman-Sheldon syndrome variant, Arthrogryposis Multiplex Congenita, Freeman-Sheldon syndrome
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