SLC35A2 Y145Pfs*76 [Golgi membrane]

Stable Identifier
R-HSA-5652114
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
UDP-galactose translocator, S35A2_HUMAN
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P78381 SLC35A2
Gene Names
SLC35A2, UGALT, UGT, UGTL
Chain
chain:1-396
Reference Genes
BioGPS Gene:7355 SLC35A2
COSMIC (genes):SLC35A2 SLC35A2
CTD Gene:7355 SLC35A2
dbSNP Gene:7355 SLC35A2
ENSEMBL:ENSG00000102100 SLC35A2
HGNC:11022 SLC35A2
KEGG:hsa:7355 SLC35A2
Monarch:7355 SLC35A2
NCBI Gene:7355 SLC35A2
OMIM:314375 SLC35A2
UCSC:P78381 SLC35A2
Reference Transcript
Participates
as a member of
Other forms of this molecule
SLC35A2 [Golgi membrane]
SLC35A2 M1? [Golgi membrane]
SLC35A2 V331I [Golgi membrane]
SLC35A2 G8Sfs*9 [Golgi membrane]
SLC35A2 F324Lfs*25 [Golgi membrane]
Modified Residues
Name
Replacement of residues 145 to 219 by PAEDPDHSAVLRAHAESQPFPAAVGLPAAPLHWRRHCPGTASRWGRPTATGSEPWGRPGSRRGLLSLLRLRRCLL
Disease
Name Identifier Synonyms
early infantile epileptic encephalopathy DOID:0050709 infantile spasm
Cross References
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
Interactors (3)
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