Protein Variants | Comment | Organism |
---|---|---|
A122D | loss of structural and molecular dynamic properties of the enzyme, the mutation is potentially related with the severity of alkaptonuria | Homo sapiens |
A122D | the mutation is potentially related with the severity of alkaptonuria | Homo sapiens |
V300G | loss of structural and molecular dynamic properties of the enzyme, the mutation is potentially related with the severity of alkaptonuria | Homo sapiens |
V300G | the mutation is potentially related with the severity of alkaptonuria | Homo sapiens |
W60G | loss of structural and molecular dynamic properties of the enzyme, the mutation is potentially related with the severity of alkaptonuria | Homo sapiens |
W60G | the mutation is potentially related with the severity of alkaptonuria | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q93099 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
HgD | - |
Homo sapiens |
homogentisate 1,2 dioxigenase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | alkaptonuria is an autosomal recessive disorder, which is caused by a site-specific mutation(s) and thus, impairs the function of homogentisate-1, 2-dioxygenase | Homo sapiens |
malfunction | alkaptonuria is an autosomal recessive disorder, which is caused by a site-specific mutations and thus, impairs the function of homogentisate-1,2-dioxygenase | Homo sapiens |
physiological function | essential enzyme for the catabolism of phenylalanine and tyrosine | Homo sapiens |