SLC35A2 M1? [Golgi membrane]

Stable Identifier
R-HSA-5652101
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
SLC35A2 Met1?, UDP-galactose translocator, S35A2_HUMAN, SCL35A2 A2_M73del, SLC35A2 M1I, SLC35A2 Met1Ile, NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
23561849 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Ng, BG, Buckingham, KJ, Raymond, K, Kircher, M, Turner, EH, He, M, Smith, JD, Eroshkin, A, Szybowska, M, Losfeld, ME, Chong, JX, Kozenko, M, Li, C, Patterson, MC, Gilbert, RD, Nickerson, DA, Shendure, J, Bamshad, MJ

Am. J. Hum. Genet. 2013
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 Y145Pfs*76 [Golgi membrane]
SLC35A2 V331I [Golgi membrane]
SLC35A2 G8Sfs*9 [Golgi membrane]
SLC35A2 F324Lfs*25 [Golgi membrane]
Modified Residues
Name
Deletion of residues 1 to 72
Disease
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
Mondo
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
ClinVar
Interactors (3)
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