Defective SLC35A3 does not exchange UDP-GlcNAc for UMP

Stable Identifier
R-HSA-5653622
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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). 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. Mutations causing AMRS are Q172* and S296G (Edvardson et al. 2013).

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
Participant Of
Catalyst Activity
Catalyst Activity
Title
UDP-N-acetylglucosamine transmembrane transporter activity of SLC35A3 mutants [Golgi membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
epilepsy syndrome 1826 epilepsy, epileptic syndrome
developmental disorder of mental health 0060037
distal arthrogryposis 0050646 Sheldon-Hall syndrome, Freeman-Sheldon syndrome variant, Arthrogryposis Multiplex Congenita, Freeman-Sheldon syndrome
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