HEXB I322Kfs*5

Stable Identifier
R-HSA-3700889
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
HEXBB, Beta-hexosaminidase subunit beta B, HEXB_HUMAN, HEXB
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
00511+3.2.1.52
00513+3.2.1.52
00520+3.2.1.52
00531+3.2.1.52
00603+3.2.1.52
00604+3.2.1.52
11715837_a_at
16986203
201944_at
2815804
2815805
2815806
2815807
2815808
2815810
2815815
2815816
2815817
2815820
2815822
2815824
2815825
2815826
2815830
2815832
2815833
2815834
2815837
2815839
2815841
2815842
3074
55409
56010
8106252
A_14_P100715
A_14_P119296
CCDS4022
D6REQ8
ENSG00000049860
ENSP00000261416
ENST00000261416
EntrezGene:3074
g13128866_3p_s_at
GE60505
GO:0000003
GO:0000902
GO:0001501
GO:0001669
GO:0002376
GO:0003674
GO:0004553
GO:0004563
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0005975
GO:0006629
GO:0006687
GO:0006689
GO:0006790
GO:0006810
GO:0006874
GO:0007040
GO:0007338
GO:0007341
GO:0007605
GO:0007626
GO:0008049
GO:0008150
GO:0008152
GO:0008360
GO:0008375
GO:0008654
GO:0009056
GO:0009058
GO:0009313
GO:0016020
GO:0016192
GO:0016757
GO:0016787
GO:0016798
GO:0019915
GO:0019953
GO:0030154
GO:0030203
GO:0030207
GO:0030214
GO:0031323
GO:0031410
GO:0034641
GO:0035578
GO:0040011
GO:0042340
GO:0042552
GO:0042582
GO:0042592
GO:0042803
GO:0043202
GO:0043226
GO:0043312
GO:0043615
GO:0044267
GO:0044281
GO:0045944
GO:0046982
GO:0048477
GO:0048856
GO:0048870
GO:0050877
GO:0050885
GO:0050905
GO:0070062
GO:0102148
HEXB
HEXB-201
HGNC:4879
IPR015883
IPR017853
IPR025705
IPR029018
IPR029019
M23294_at
MIM:268800
MIM:606873
NM_000521
NP_000512
PF00728
PF14845
PH_hs_0022175
PR00738
Q5URX0
TC05000359.hg
TC05002451.hg
uc003kdf.4
UPI000013D183
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 322 to 325 by KTLL
Disease
Name Identifier Synonyms
gangliosidosis GM2 3321 GM>2< gangliosidosis (disorder)
Cross References
GeneCards
ZINC - Substances
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein