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

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

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