Defective SLC35A3 does not exchange UDP-GlcNAc for UMP

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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

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
Catalyst Activity

UDP-N-acetylglucosamine transmembrane transporter activity of SLC35A3 mutants [Golgi membrane]

Normal reaction
Functional status

Loss of function of SLC35A3 mutants [Golgi membrane]

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
Cite Us!