Type | Description |
---|---|
Definition | phenylalanine hydroxylase |
Date | Results | Publications |
---|---|---|
2021-03-28 19:08:00 | PREVALENCE OF PAH MUTATIONS IN GEORGIAN PKU PATIENTS COMPARED TO MOST FREQUENT PAH MUTATIONS IN EUROPEAN POPULATIONS. | 33395657 |
2021-03-06 13:30:00 | E3 Ubiquitin Ligase APC/C(Cdh1) Regulation of Phenylalanine Hydroxylase Stability and Function. | 33260674 |
2020-12-19 13:42:00 | IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE OF MATO | 32074228 |
2020-12-12 13:25:00 | Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran. | 32069237 |
2020-10-03 12:56:00 | Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study. | 31923802 |
Type | IDs |
---|---|
Synonymous | PH, PKU, PKU1 |
Gene |
UniProtKB-ID:
PH4H_HUMAN,
A0A024RBG4_HUMAN
UniprotKB:
P00439,
A0A024RBG4
UniParc:
UPI00001318A0
EMBL:
S61296,
K03020,
CH471054,
U49897,
BC026251
Ensembl:
ENSG00000171759
KO:
hsa:5053
|
Nucleutide sequences |
EMBL-CDS:
AAC51772.1,
AAA60082.1,
AAD13926.1,
AAH26251.1,
EAW97701.1,
EAW97702.1,
EAW97700.1
Gene_ORFName:
hCG_21871
Ensembl_TRS:
ENST00000553106
|
Protein sequencees |
Ensembl_PRO:
ENSP00000448059
RefSeq:
XP_016874859.1,
NP_000268.1,
NP_001341233.1
|
Others |
UniRef100:
UniRef100_P00439
UniRef90:
UniRef90_P00439
UniRef50:
UniRef50_P00439
UniGene:
Hs.603740
CCDS:
CCDS9092.1
|
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Refseq |
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