Protein Variants | Comment | Organism |
---|---|---|
R178H | from patient with the genetic disease GM2-gangliosidosis B1 variant, mutated Hex A, altered active site of alpha subunit | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
N-acetyl-beta-D-hexosaminides + H2O | Homo sapiens | - |
N-acetyl-D-hexosamines | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patient with GM2-gangliosidosis B1 variant | - |
Posttranslational Modification | Comment | Organism |
---|---|---|
glycoprotein | - |
Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | lysate | Homo sapiens | - |
plasma | desalinated | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
3,3-dichlorophenylsulfonphthaleinyl-N-acetyl-beta-D-glucosaminide + H2O | - |
Homo sapiens | ? | - |
? | |
4-methylumbelliferyl-2-acetamido-2-deoxy-beta-D-glucopyranoside + H2O | Hex A, R178H, and Hex B | Homo sapiens | 4-methylumbelliferone + 2-acetamido-2-deoxy-beta-D-glucopyranoside | - |
? | |
4-methylumbelliferyl-2-acetamido-2-deoxy-beta-D-glucopyranoside-6-sulfate + H2O | Hex A, not hydrolyzed by R178H | Homo sapiens | 4-methylumbelliferone + 2-acetamido-2-deoxy-beta-D-glucopyranoside-6-sulfate | - |
? | |
N-acetyl-beta-D-hexosaminides + H2O | - |
Homo sapiens | N-acetyl-D-hexosamines | - |
? |
Subunits | Comment | Organism |
---|---|---|
dimer | Hex S: alpha alpha | Homo sapiens |
dimer | Hex A: alpha beta, Hex B: beta beta | Homo sapiens |