HEXB I322Kfs*5 [lysosomal lumen]

Stable Identifier
R-HSA-3700889
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
HEXBB, Beta-hexosaminidase subunit beta B, HEXB_HUMAN, HEXB
HEXB I322Kfs*5 [lysosomal lumen] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
HEXB, HCC7
Chain
signal peptide:1-42, propeptide:43-121, chain:122-556, chain:122-311, chain:315-556
Other Identifiers
11715837_a_at
16986203
201944_PM_at
201944_at
2815804
2815805
2815806
2815807
2815808
2815810
2815815
2815816
2815817
2815820
2815822
2815824
2815825
2815826
2815830
2815832
2815833
2815834
2815837
2815839
2815841
2815842
2815843
2815844
3074
8106252
A_14_P100715
A_14_P119296
GE60505
GO:0001501
GO:0001669
GO:0003824
GO:0004553
GO:0004563
GO:0005515
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0005975
GO:0006351
GO:0006355
GO:0006629
GO:0006687
GO:0006689
GO:0006790
GO:0006874
GO:0007040
GO:0007338
GO:0007341
GO:0007605
GO:0007626
GO:0008049
GO:0008152
GO:0008360
GO:0008375
GO:0008654
GO:0009313
GO:0015929
GO:0016020
GO:0016740
GO:0016787
GO:0016798
GO:0019538
GO:0019915
GO:0019953
GO:0022414
GO:0030154
GO:0030203
GO:0030207
GO:0030209
GO:0030214
GO:0031410
GO:0035578
GO:0042552
GO:0042582
GO:0042802
GO:0043202
GO:0043226
GO:0043615
GO:0045944
GO:0048477
GO:0048856
GO:0048870
GO:0050877
GO:0050885
GO:0050905
GO:0051651
GO:0055065
GO:0060473
GO:0070050
GO:0070062
GO:0102148
GO:1901135
GO:1905379
HMNXSV003058045
M23294_at
PH_hs_0022175
TC05000359.hg
TC05002451.hg
g13128866_3p_s_at
Participates
Other forms of this molecule
Modified Residues
Name
Replacement of residues 322 to 325 by KTLL
Disease
Name Identifier Synonyms
gangliosidosis GM2 DOID:3321 GM>2< gangliosidosis (disorder)
Cross References
OpenTargets
ZINC - Substances
ZINC target
PRO
GeneCards
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
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