SGSH C1091del [lysosomal lumen]

Stable Identifier
R-HSA-2214344
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
N-sulphoglucosamine sulphohydrolase, SPHM_HUMAN, p.Cys1091del SGSH
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SGSH, HSS
Chain
signal peptide:1-20, chain:21-502
Reference Transcript
Other Identifiers
0001740309
11721100_a_at
11721101_x_at
11721102_a_at
16849681
204293_at
35626_at
3773358
3773359
3773360
3773361
3773362
3773363
3773364
3773368
3773369
3773372
3773374
3773375
3773378
3773379
3773380
6448
8019061
GE59070
GO:0003674
GO:0003824
GO:0005539
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005773
GO:0006027
GO:0008150
GO:0008449
GO:0008484
GO:0009056
GO:0016250
GO:0016787
GO:0030200
GO:0043167
GO:0043202
GO:0043226
GO:0046872
GO:0070062
ILMN_1782347
ILMN_2133675
PH_hs_0002653
TC17001934.hg
U30894_at
g4506918_3p_s_at
Participant Of
Other forms of this molecule
Modified Residues
Name
Deletion of residues 1091 to 1091
Disease
Name Identifier Synonyms
mucopolysaccharidosis III 12801 Sanfilippo's syndrome, SANFILIPPO SYNDROME B, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, mucopolysaccharidosis type IIIB, NAGLU DEFICIENCY, mucopolysaccharidosis type IIIA, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder), mucopolysaccharidosis III, SANFILIPPO SYNDROME A, N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY, HEPARAN SULFATE SULFATASE DEFICIENCY, mucopolysaccharidosis type III
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
PRO
Orphanet
HMDB Protein
PDB
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