Protein Variants | Comment | Organism |
---|---|---|
A202T | the mutation is associated with phenylketonuria | Homo sapiens |
A259T | the mutation is associated with phenylketonuria | Homo sapiens |
A447P | the mutation is associated with phenylketonuria | Homo sapiens |
G247R | the mutation is associated with phenylketonuria | Homo sapiens |
G332E | the mutation is associated with phenylketonuria | Homo sapiens |
G344D | the mutation is associated with phenylketonuria | Homo sapiens |
I65T | the mutation is associated with phenylketonuria | Homo sapiens |
L48S | the mutation is associated with phenylketonuria | Homo sapiens |
P281L | the mutation is associated with phenylketonuria | Homo sapiens |
R111X | the mutation is associated with phenylketonuria | Homo sapiens |
R176X | the mutation is associated with phenylketonuria | Homo sapiens |
R241C | the mutation is associated with phenylketonuria | Homo sapiens |
R243Q | the mutation is associated with phenylketonuria | Homo sapiens |
R413P | the mutation is associated with phenylketonuria | Homo sapiens |
T278I | the mutation is associated with phenylketonuria | Homo sapiens |
V388M | the mutation is associated with phenylketonuria | Homo sapiens |
W187X | the mutation is associated with phenylketonuria | Homo sapiens |
Y204C | the mutation is associated with phenylketonuria | Homo sapiens |
Y356X | the mutation is associated with phenylketonuria | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + 5,6,7,8-tetrahydrobiopterin + O2 | Homo sapiens | - |
L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00439 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + 5,6,7,8-tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
5,6,7,8-tetrahydro-L-biopterin | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | phenylketonuria is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase | Homo sapiens |