CD320 E88del [plasma membrane]

Stable Identifier
R-HSA-3325560
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
CD320 antigen, CD320_HUMAN, CD320
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
CD320, 8D6A, UNQ198/PRO224
Chain
signal peptide:1-35, chain:36-282
Other Identifiers
0005700292
11717750_a_at
16868130
218529_at
3848872
3848873
3848875
3848876
3848877
3848878
3848880
3848883
3848884
48057_at
51293
69559_i_at
8033554
A_23_P119698
GE54934
GO:0002376
GO:0003674
GO:0005509
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005768
GO:0005783
GO:0005886
GO:0005887
GO:0006810
GO:0007165
GO:0008083
GO:0008150
GO:0008283
GO:0009235
GO:0010008
GO:0015420
GO:0015889
GO:0016020
GO:0016021
GO:0022857
GO:0030656
GO:0030890
GO:0031296
GO:0031410
GO:0031419
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0051186
ILMN_1670574
ILMN_2115633
PH_hs_0023843
TC19001127.hg
g7706110_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-glutamic acid 88 replaced with unknown
Coordinate
88
PsiMod
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
methylmalonic acidemia 14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
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