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SLC35A3 mutants [Golgi membrane]
Stable Identifier
R-HSA-5653620
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Golgi membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) (Homo sapiens)
Defective SLC35A3 does not exchange UDP-GlcNAc for UMP (Homo sapiens)
SLC35A3 mutants [Golgi membrane] (Homo sapiens)
Participants
members
SLC35A3 Q172* [Golgi membrane]
(Homo sapiens)
SLC35A3 S296G [Golgi membrane]
(Homo sapiens)
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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