LMBRD1 L352fs*19 [lysosomal membrane]

Stable Identifier
R-HSA-3315419
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Probable lysosomal cobalamin transporter, LMBD1_HUMAN, LMBRD1
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
LMBRD1, C6orf209, NESI, BM-021, CD001, MSTP044
Chain
chain:1-540
Other Identifiers
0002640154
11725035_s_at
17020620
218191_s_at
2960023
2960024
2960025
2960026
2960027
2960028
2960029
2960031
2960041
2960042
2960043
2960044
2960045
2960046
2960047
2960048
2960059
2960061
2960062
2960065
2960072
2960074
2960078
2960082
2960083
2960087
2960088
2960089
2960092
2960097
2960098
48651_at
55788
8127425
A_23_P81660
A_33_P3359115
GE88467
GE88468
GO:0003674
GO:0005158
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005764
GO:0005765
GO:0005773
GO:0005886
GO:0006810
GO:0008150
GO:0009235
GO:0015420
GO:0015889
GO:0016020
GO:0016021
GO:0016032
GO:0022857
GO:0031410
GO:0031419
GO:0043226
GO:0044281
GO:0044403
GO:0045334
GO:0051186
ILMN_1652128
PH_hs_0025749
TC06001854.hg
g8922955_3p_s_at
Other forms of this molecule
Modified Residues
Name
Replacement of residues 352 to 369 by LICFCLYYKQFSLIIFL
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblF 0050717 Cobalamin F deficiency
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