Property Summary

NCBI Gene PubMed Count 240
Grant Count 100
R01 Count 55
Funding $17,686,578.68
PubMed Score 616.03
PubTator Score 1445.31

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P00439 Q16717 Q8TC14 PAH
Symbols PH
PKU
PKU1

Gene

PAH

PDB

1DMW   1J8T   1J8U   1KW0   1LRM   1MMK   1MMT   1PAH   1TDW   1TG2   2PAH   3PAH   4ANP   4PAH   5FII   5PAH   6PAH  

Gene RIF (149)

PMID Text
27264808 The mutation spectrum of PAH gene in Henan seems to differ from that of other regions. Independent assortment of mutant alleles may result in a complex genotype-phenotype correlation.
26600521 PAH gene mutation analysis combined with STR linkage analysis can provide rapid and accurate prenatal diagnosis for phenylketonuria families
26575882 mutation spectrum of the gene PAH in the Qinghai population was similar to that in other populations in North China
26025954 This study is the first report on tested population genetic structure using VNTR alleles at the PAH gene
25990862 Aberrant methylation is observed in leukocytes of PAH deficient phenylketonuria patients and is influenced by phenylalanine exposure.
25894915 This study identified one novel PAH variant-c.699C>G-and and tries to show a genotype-phenotype relationship also regarding BH4-responsiveness.
25863076 R241C, R408Q and Ex6-96A>G are the most common mutations in PAH in phenylalanine hydroxylase deficiency patients.
25863075 15 different mutations of phenylalanine hydroxylase gene were detected in patients with phenylketonuria.
25750018 Combining in silico analysis and molecular dynamics simulations (in total 3 mus) we described the structural impact of the mutations, which allowed us to separate 32 out of 34 mutations between groups A and B.
25596310 We determined phenylalanine hydroxylase function of 30 frequent homozygous and compound heterozygous genotypes covering 55% of the study population.
More...

AA Sequence

MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPS      1 - 70
RLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGA     71 - 140
ELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIF    141 - 210
PLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPE    211 - 280
PDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSS    281 - 350
FGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQR    351 - 420
IEVLDNTQQLKILADSINSEIGILCSALQKIK                                          421 - 452
//

Text Mined References (247)

PMID Year Title
27264808 2016 [Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
26600521 2015 Prenatal diagnosis of Chinese families with phenylketonuria.
26575882 2015 [Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
26025954 2015 Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.
25990862 Altered DNA methylation in PAH deficient phenylketonuria.
25894915 2015 Mutational spectrum of phenylketonuria in Jiangsu province.
25863076 2015 [Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
25863075 2015 [Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].
25750018 2015 Computational study of missense mutations in phenylalanine hydroxylase.
25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
More...