HEXA Y427Ifs*5 [lysosomal lumen]

Stable Identifier
R-HSA-3700918
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Beta-hexosaminidase subunit alpha, HEXA_HUMAN
HEXA Y427Ifs*5 [lysosomal lumen] icon
External Reference Information
External Reference
Gene Names
HEXA
Chain
signal peptide:1-22, propeptide:23-88, chain:89-529
Other Identifiers
11716888_s_at
11756829_x_at
11760303_x_at
11760537_x_at
16811437
201765_PM_s_at
201765_s_at
243511_PM_at
243511_at
3073
3632163
3632164
3632165
3632166
3632167
3632168
3632169
3632170
3632171
3632172
3632175
3632178
3632179
3632181
3632183
3632184
3632185
3632187
3632189
3632190
3632193
3632196
3632209
3632210
39340_at
48251_at
62860_at
7990211
A_19_P00803285
GE79844
GO:0001501
GO:0003824
GO:0004553
GO:0004563
GO:0005515
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0005829
GO:0005975
GO:0006024
GO:0006629
GO:0006689
GO:0006790
GO:0007040
GO:0007605
GO:0007626
GO:0007628
GO:0008152
GO:0008375
GO:0016020
GO:0016740
GO:0016787
GO:0016798
GO:0019915
GO:0019953
GO:0023052
GO:0030154
GO:0030203
GO:0030209
GO:0030214
GO:0031410
GO:0042552
GO:0042582
GO:0043202
GO:0043226
GO:0043231
GO:0046982
GO:0048667
GO:0048856
GO:0050877
GO:0050884
GO:0050885
GO:0051651
GO:0060395
GO:0070062
GO:0102148
GO:1901135
GO:1905379
HMNXSV003054347
Hs.119403.0.A1_3p_a_at
Hs.149332.0.A1_3p_at
ILMN_1813911
M16424_at
PH_hs_0019542
TC15002611.hg
TC15002779.hg
Other forms of this molecule
Modified Residues
Name
Replacement of residues 427 to 430 by ILWP
Disease
Name Identifier Synonyms
gangliosidosis GM1 DOID:3322 GM1 gangliosidosis (disorder), GM>1< gangliosidosis (disorder), beta-Galactosidase deficiency, deficiency of beta-galactosidase (disorder), Beta-galactosidase deficiency, Landing syndrome
Cross References
OpenTargets
ZINC - Substances
ZINC target
PRO
PDB
IntEnz
GeneCards
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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