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Literature summary for 1.14.16.1 extracted from

  • Lee, Y.W.; Lee, D.H.; Kim, N.D.; Lee, S.T.; Ahn, J.Y.; Choi, T.Y.; Lee, Y.K.; Kim, S.H.; Kim, J.W.; Ki, C.S.
    Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria (2008), Exp. Mol. Med., 40, 533-540.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.14.16.1

Protein Variants

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens P00439
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-phenylalanine + 5,6,7,8-tetrahydrobiopterin + O2
-
 Homo sapiens L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
 ?

Synonyms

Synonyms Comment Organism
PAH
-
 Homo sapiens
phenylalanine hydroxylase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
5,6,7,8-tetrahydro-L-biopterin
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction phenylketonuria is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase Homo sapiens