ALG2 G347Vfs*27

Stable Identifier
R-HSA-4549361
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Alpha-1,3-mannosyltransferase ALG2, ALG2_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ALG2, UNQ666/PRO1298
Chain
chain:1-416
Reference Transcript
Other Identifiers
0005360113
11724754_a_at
11757951_s_at
17096546
225621_at
3217514
3217515
3217516
3217518
3217519
3217521
3217522
3217523
41512
41601
44054_at
76713_r_at
8162827
85365
A0A024R184
A_23_P146728
ALG2
ALG2-202
ALG2-203
CCDS6739
ENSG00000119523
ENSP00000326609
ENSP00000417764
ENST00000319033
ENST00000476832
EntrezGene:85365
GE79287
GO:0000033
GO:0004378
GO:0005515
GO:0005634
GO:0005737
GO:0005789
GO:0006486
GO:0006488
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0033577
GO:0046982
GO:0047485
GO:0048306
GO:0048471
GO:0051592
GO:0097502
GO:0102704
HGNC:23159
HPA041512
HPA041601
Hs.40919
Hs.40919.1.S1_3p_at
ILMN_1722688
MIM:607905
MIM:607906
MIM:616228
NM_033087
NP_149078
PF00534
PF13439
PH_hs_0028866
TC09002699.hg
uc004azf.4
uc064utu.1
UPI0000039E65
UPI0000073E01
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 347 to 372 by VDPWSPLTTVSQGFCVSLTRCTSQKQ
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
RefSeq
GeneCards
PRO
Orphanet
HMDB Protein