GYS1 R462* [cytosol]

Stable Identifier
R-HSA-3828056
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
glycogen synthase 1 R462*, Glycogen (starch) synthase, muscle R462X
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

Kollberg, G, Tulinius, M, Gilljam, T, Ostman-Smith, I, Forsander, G, Jotorp, P, Oldfors, A, Holme, E

N Engl J Med 2007
External Reference Information
External Reference
Gene Names
GYS1, GYS
Chain
chain:1-737
Other Identifiers
0003170152
11719371_a_at
11751201_a_at
11753041_a_at
16874156
201673_s_at
2997
37299_at
3867539
3867540
3867541
3867542
3867543
3867545
3867547
3867549
3867550
3867551
3867552
3867556
3867557
3867558
3867559
3867560
3867562
3867565
3867567
3867568
3867569
8038261
A_23_P208698
GE57509
GO:0003674
GO:0003824
GO:0004373
GO:0005515
GO:0005536
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0005975
GO:0005977
GO:0005978
GO:0006091
GO:0007507
GO:0008150
GO:0008152
GO:0009058
GO:0016020
GO:0016234
GO:0016740
GO:0016757
GO:0019899
GO:0019901
GO:0048856
GO:0061547
ILMN_1711289
J04501_at
PH_hs_0024385
TC19001703.hg
TC19002540.hg
g4504232_3p_a_at
Participant Of
Other forms of this molecule
Disease
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis
Cross References
OpenTargets
IntEnz
ZINC - Substances
GeneCards
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
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