Reaction: Defective SLC35A3 does not exchange UDP-GlcNAc for UMP

- in pathway: Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
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).
Reaction - small molecule participants:
UMP [Golgi lumen]
UDP-GlcNAc [cytosol]
Reactome.org reaction link: R-HSA-5653622

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Reaction input - small molecules:
uridine 5'-monophosphate(2-)
ChEBI:57865
UDP-N-acetyl-alpha-D-glucosamine(2-)
ChEBI:57705
Reaction output - small molecules:
Reactome.org link: R-HSA-5653622